Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.34876207_34881076delCA1139533046RUNX1c.352-363_508+4350del
c.271-363_427+4350del
c.316-363_472+4350del
c.59-363_*98+4350del
c.313-363_469+4350del
n.531-363_687+4350del
c.199-363_355+4350del
n.578-363_734+4350del
21g.34880655_34880656insATTCTACCTGGTTCTTCATGGCTGCGGTAGCATTTCTCAGCTCAGCCGAGTAGTTTTCATCA645607353RUNX1c.464_465insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val155_Ala156insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
c.383_384insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val128_Ala129insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
c.428_429insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val143_Ala144insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
c.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (n.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT)
c.425_426insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val142_Ala143insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
n.643_644insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT
c.311_312insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val104_Ala105insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
n.690_691insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT
COSMIC
21g.34880612C>ACA10014511RUNX1c.453G>T (p.Met151Ile)
c.372G>T (p.Met124Ile)
c.417G>T (p.Met139Ile)
c.414G>T (p.Met138Ile)
c.*43G>T (n.*43G>T)
n.632G>T
c.300G>T (p.Met100Ile)
n.679G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880612C=CA2387294334RUNX1c.453G= (p.Met151=)
c.372G= (p.Met124=)
c.417G= (p.Met139=)
c.414G= (p.Met138=)
c.*43G= (n.*43G=)
n.632G=
c.300G= (p.Met100=)
n.679G=
21g.34880612C>GCA410202579RUNX1c.453G>C (p.Met151Ile)
c.372G>C (p.Met124Ile)
c.417G>C (p.Met139Ile)
c.414G>C (p.Met138Ile)
c.*43G>C (n.*43G>C)
n.632G>C
c.300G>C (p.Met100Ile)
n.679G>C
dbSNP
21g.34880612C>TCA410202580RUNX1c.453G>A (p.Met151Ile)
c.372G>A (p.Met124Ile)
c.417G>A (p.Met139Ile)
c.414G>A (p.Met138Ile)
c.*43G>A (n.*43G>A)
n.632G>A
c.300G>A (p.Met100Ile)
n.679G>A
dbSNP
21g.34880613A>CCA410202581RUNX1c.452T>G (p.Met151Arg)
c.371T>G (p.Met124Arg)
c.416T>G (p.Met139Arg)
c.413T>G (p.Met138Arg)
c.*42T>G (n.*42T>G)
n.631T>G
c.299T>G (p.Met100Arg)
n.678T>G
COSMIC
21g.34880613A>GCA410202582RUNX1c.452T>C (p.Met151Thr)
c.371T>C (p.Met124Thr)
c.416T>C (p.Met139Thr)
c.413T>C (p.Met138Thr)
c.*42T>C (n.*42T>C)
n.631T>C
c.299T>C (p.Met100Thr)
n.678T>C
dbSNP
21g.34880613A>TCA410202583RUNX1c.452T>A (p.Met151Lys)
c.371T>A (p.Met124Lys)
c.416T>A (p.Met139Lys)
c.413T>A (p.Met138Lys)
c.*42T>A (n.*42T>A)
n.631T>A
c.299T>A (p.Met100Lys)
n.678T>A
dbSNP
21g.34880614T>ACA410202584RUNX1c.451A>T (p.Met151Leu)
c.370A>T (p.Met124Leu)
c.415A>T (p.Met139Leu)
c.412A>T (p.Met138Leu)
c.*41A>T (n.*41A>T)
n.630A>T
c.298A>T (p.Met100Leu)
n.677A>T
ClinVar
21g.34880614T>CCA10014512RUNX1c.451A>G (p.Met151Val)
c.370A>G (p.Met124Val)
c.415A>G (p.Met139Val)
c.412A>G (p.Met138Val)
c.*41A>G (n.*41A>G)
n.630A>G
c.298A>G (p.Met100Val)
n.677A>G
ClinVar dbSNP ExAC gnomAD v2
21g.34880614T>GCA410202585RUNX1c.451A>C (p.Met151Leu)
c.370A>C (p.Met124Leu)
c.415A>C (p.Met139Leu)
c.412A>C (p.Met138Leu)
c.*41A>C (n.*41A>C)
n.630A>C
c.298A>C (p.Met100Leu)
n.677A>C
21g.34880614T=CA2387294335RUNX1c.451A= (p.Met151=)
c.370A= (p.Met124=)
c.415A= (p.Met139=)
c.412A= (p.Met138=)
c.*41A= (n.*41A=)
n.630A=
c.298A= (p.Met100=)
n.677A=
21g.34880615G>ACA512318714RUNX1c.450C>T (p.Ala150=)
c.369C>T (p.Ala123=)
c.414C>T (p.Ala138=)
c.411C>T (p.Ala137=)
c.*40C>T (n.*40C>T)
n.629C>T
c.297C>T (p.Ala99=)
n.676C>T
dbSNP gnomAD v2 gnomAD v4
21g.34880615G>CCA512318716RUNX1c.450C>G (p.Ala150=)
c.369C>G (p.Ala123=)
c.414C>G (p.Ala138=)
c.411C>G (p.Ala137=)
c.*40C>G (n.*40C>G)
n.629C>G
c.297C>G (p.Ala99=)
n.676C>G
dbSNP
21g.34880615G=CA2387294337RUNX1c.450C= (p.Ala150=)
c.369C= (p.Ala123=)
c.414C= (p.Ala138=)
c.411C= (p.Ala137=)
c.*40C= (n.*40C=)
n.629C=
c.297C= (p.Ala99=)
n.676C=
21g.34880615G>TCA512318712RUNX1c.450C>A (p.Ala150=)
c.369C>A (p.Ala123=)
c.414C>A (p.Ala138=)
c.411C>A (p.Ala137=)
c.*40C>A (n.*40C>A)
n.629C>A
c.297C>A (p.Ala99=)
n.676C>A
dbSNP
21g.34880616delCA512318715RUNX1c.450del (p.Met151Ter)
c.369del (p.Met124Ter)
c.414del (p.Met139Ter)
c.411del (p.Met138Ter)
c.*40del (n.*40del)
n.629del
c.297del (p.Met100Ter)
n.676del
COSMIC
21g.34880615_34880623delinsGGCTGCGGTCA2387294336RUNX1c.442_450delinsACCGCAGCC (p.Thr148=)
c.361_369delinsACCGCAGCC (p.Thr121=)
c.406_414delinsACCGCAGCC (p.Thr136=)
c.403_411delinsACCGCAGCC (p.Thr135=)
c.*32_*40delinsACCGCAGCC (n.*32_*40delinsACCGCAGCC)
n.621_629delinsACCGCAGCC
c.289_297delinsACCGCAGCC (p.Thr97=)
n.668_676delinsACCGCAGCC
21g.34880616G>ACA410202588RUNX1c.449C>T (p.Ala150Val)
c.368C>T (p.Ala123Val)
c.413C>T (p.Ala138Val)
c.410C>T (p.Ala137Val)
c.*39C>T (n.*39C>T)
n.628C>T
c.296C>T (p.Ala99Val)
n.675C>T
dbSNP
21g.34880616G>CCA410202587RUNX1c.449C>G (p.Ala150Gly)
c.368C>G (p.Ala123Gly)
c.413C>G (p.Ala138Gly)
c.410C>G (p.Ala137Gly)
c.*39C>G (n.*39C>G)
n.628C>G
c.296C>G (p.Ala99Gly)
n.675C>G
dbSNP
21g.34880616G>TCA410202586RUNX1c.449C>A (p.Ala150Asp)
c.368C>A (p.Ala123Asp)
c.413C>A (p.Ala138Asp)
c.410C>A (p.Ala137Asp)
c.*39C>A (n.*39C>A)
n.628C>A
c.296C>A (p.Ala99Asp)
n.675C>A
ClinVar dbSNP
21g.34880616_34880623delCA248627RUNX1c.442_449del (p.Thr148HisfsTer9)
c.361_368del (p.Thr121HisfsTer9)
c.406_413del (p.Thr136HisfsTer9)
c.403_410del (p.Thr135HisfsTer?)
c.*32_*39del (n.*32_*39del)
c.403_410del (p.Thr135HisfsTer9)
n.621_628del
c.289_296del (p.Thr97HisfsTer9)
n.668_675del
ClinVar dbSNP
21g.34880618_34880626delCA2695202536RUNX1c.441_449del (p.Thr148_Ala150del)
c.360_368del (p.Thr121_Ala123del)
c.405_413del (p.Thr136_Ala138del)
c.402_410del (p.Thr135_Ala137del)
c.*31_*39del (n.*31_*39del)
n.620_628del
c.288_296del (p.Thr97_Ala99del)
n.667_675del
21g.34880617C>ACA410202589RUNX1c.448G>T (p.Ala150Ser)
c.367G>T (p.Ala123Ser)
c.412G>T (p.Ala138Ser)
c.409G>T (p.Ala137Ser)
c.*38G>T (n.*38G>T)
n.627G>T
c.295G>T (p.Ala99Ser)
n.674G>T
dbSNP
21g.34880617C>GCA410202590RUNX1c.448G>C (p.Ala150Pro)
c.367G>C (p.Ala123Pro)
c.412G>C (p.Ala138Pro)
c.409G>C (p.Ala137Pro)
c.*38G>C (n.*38G>C)
n.627G>C
c.295G>C (p.Ala99Pro)
n.674G>C
dbSNP gnomAD v4
21g.34880617C>TCA410202591RUNX1c.448G>A (p.Ala150Thr)
c.367G>A (p.Ala123Thr)
c.412G>A (p.Ala138Thr)
c.409G>A (p.Ala137Thr)
c.*38G>A (n.*38G>A)
n.627G>A
c.295G>A (p.Ala99Thr)
n.674G>A
dbSNP
21g.34880618T>ACA512318722RUNX1c.447A>T (p.Ala149=)
c.366A>T (p.Ala122=)
c.411A>T (p.Ala137=)
c.408A>T (p.Ala136=)
c.*37A>T (n.*37A>T)
n.626A>T
c.294A>T (p.Ala98=)
n.673A>T
21g.34880618T>CCA512318721RUNX1c.447A>G (p.Ala149=)
c.366A>G (p.Ala122=)
c.411A>G (p.Ala137=)
c.408A>G (p.Ala136=)
c.*37A>G (n.*37A>G)
n.626A>G
c.294A>G (p.Ala98=)
n.673A>G
dbSNP gnomAD v4 COSMIC
21g.34880618T>GCA512318720RUNX1c.447A>C (p.Ala149=)
c.366A>C (p.Ala122=)
c.411A>C (p.Ala137=)
c.408A>C (p.Ala136=)
c.*37A>C (n.*37A>C)
n.626A>C
c.294A>C (p.Ala98=)
n.673A>C
ClinVar dbSNP
21g.34880618T=CA2387294338RUNX1c.447A= (p.Ala149=)
c.366A= (p.Ala122=)
c.411A= (p.Ala137=)
c.408A= (p.Ala136=)
c.*37A= (n.*37A=)
n.626A=
c.294A= (p.Ala98=)
n.673A=
21g.34880618_34880619insCGGTAGCATTTCTCAGCTCAGCCA645607357RUNX1c.446_447insGCTGAGCTGAGAAATGCTACCG (p.Ala150LeufsTer3)
c.365_366insGCTGAGCTGAGAAATGCTACCG (p.Ala123LeufsTer3)
c.410_411insGCTGAGCTGAGAAATGCTACCG (p.Ala138LeufsTer3)
c.407_408insGCTGAGCTGAGAAATGCTACCG (p.Ala137LeufsTer3)
c.*36_*37insGCTGAGCTGAGAAATGCTACCG (n.*36_*37insGCTGAGCTGAGAAATGCTACCG)
n.625_626insGCTGAGCTGAGAAATGCTACCG
c.293_294insGCTGAGCTGAGAAATGCTACCG (p.Ala99LeufsTer3)
n.672_673insGCTGAGCTGAGAAATGCTACCG
COSMIC
21g.34880619G>ACA410202592RUNX1c.446C>T (p.Ala149Val)
c.365C>T (p.Ala122Val)
c.410C>T (p.Ala137Val)
c.407C>T (p.Ala136Val)
c.*36C>T (n.*36C>T)
n.625C>T
c.293C>T (p.Ala98Val)
n.672C>T
21g.34880619G>CCA410202593RUNX1c.446C>G (p.Ala149Gly)
c.365C>G (p.Ala122Gly)
c.410C>G (p.Ala137Gly)
c.407C>G (p.Ala136Gly)
c.*36C>G (n.*36C>G)
n.625C>G
c.293C>G (p.Ala98Gly)
n.672C>G
dbSNP
21g.34880619G>TCA410202594RUNX1c.446C>A (p.Ala149Glu)
c.365C>A (p.Ala122Glu)
c.410C>A (p.Ala137Glu)
c.407C>A (p.Ala136Glu)
c.*36C>A (n.*36C>A)
n.625C>A
c.293C>A (p.Ala98Glu)
n.672C>A
21g.34880621_34880626dupCA645607356RUNX1c.441_446dup (p.Ala149_Ala150insThrAla)
c.360_365dup (p.Ala122_Ala123insThrAla)
c.405_410dup (p.Ala137_Ala138insThrAla)
c.402_407dup (p.Ala136_Ala137insThrAla)
c.*31_*36dup (n.*31_*36dup)
n.620_625dup
c.288_293dup (p.Ala98_Ala99insThrAla)
n.667_672dup
COSMIC
21g.34880620C>ACA410202595RUNX1c.445G>T (p.Ala149Ser)
c.364G>T (p.Ala122Ser)
c.409G>T (p.Ala137Ser)
c.406G>T (p.Ala136Ser)
c.*35G>T (n.*35G>T)
n.624G>T
c.292G>T (p.Ala98Ser)
n.671G>T
dbSNP
21g.34880620C=CA2387294339RUNX1c.445G= (p.Ala149=)
c.364G= (p.Ala122=)
c.409G= (p.Ala137=)
c.406G= (p.Ala136=)
c.*35G= (n.*35G=)
n.624G=
c.292G= (p.Ala98=)
n.671G=
21g.34880620C>GCA410202596RUNX1c.445G>C (p.Ala149Pro)
c.364G>C (p.Ala122Pro)
c.409G>C (p.Ala137Pro)
c.406G>C (p.Ala136Pro)
c.*35G>C (n.*35G>C)
n.624G>C
c.292G>C (p.Ala98Pro)
n.671G>C
dbSNP gnomAD v2
21g.34880620C>TCA10014513RUNX1c.445G>A (p.Ala149Thr)
c.364G>A (p.Ala122Thr)
c.409G>A (p.Ala137Thr)
c.406G>A (p.Ala136Thr)
c.*35G>A (n.*35G>A)
n.624G>A
c.292G>A (p.Ala98Thr)
n.671G>A
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
21g.34880629_34880630insCTTCAGCTCAGCCGGTAGCATTCA645607359RUNX1c.445_446insGCTGAGCTGAAGAATGCTACCG (p.Ala149GlyfsTer2)
c.364_365insGCTGAGCTGAAGAATGCTACCG (p.Ala122GlyfsTer2)
c.409_410insGCTGAGCTGAAGAATGCTACCG (p.Ala137GlyfsTer2)
c.406_407insGCTGAGCTGAAGAATGCTACCG (p.Ala136GlyfsTer2)
c.*35_*36insGCTGAGCTGAAGAATGCTACCG (n.*35_*36insGCTGAGCTGAAGAATGCTACCG)
n.624_625insGCTGAGCTGAAGAATGCTACCG
c.292_293insGCTGAGCTGAAGAATGCTACCG (p.Ala98GlyfsTer2)
n.671_672insGCTGAGCTGAAGAATGCTACCG
COSMIC
21g.34880622_34880643dupCA645607358RUNX1c.424_445dup (p.Ala149GlyfsTer2)
c.343_364dup (p.Ala122GlyfsTer2)
c.388_409dup (p.Ala137GlyfsTer2)
c.385_406dup (p.Ala136GlyfsTer2)
c.*14_*35dup (n.*14_*35dup)
n.603_624dup
c.271_292dup (p.Ala98GlyfsTer2)
n.650_671dup
COSMIC COSMIC
21g.34880620_34880651dupCA2580617823RUNX1c.414_445dup (p.Ala149GlufsTer7)
c.333_364dup (p.Ala122GlufsTer7)
c.378_409dup (p.Ala137GlufsTer7)
c.375_406dup (p.Ala136GlufsTer7)
c.*4_*35dup (n.*4_*35dup)
n.593_624dup
c.261_292dup (p.Ala98GlufsTer7)
n.640_671dup
21g.34880621G>ACA10014514RUNX1c.444C>T (p.Thr148=)
c.363C>T (p.Thr121=)
c.408C>T (p.Thr136=)
c.405C>T (p.Thr135=)
c.*34C>T (n.*34C>T)
n.623C>T
c.291C>T (p.Thr97=)
n.670C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.34880621G>CCA512318725RUNX1c.444C>G (p.Thr148=)
c.363C>G (p.Thr121=)
c.408C>G (p.Thr136=)
c.405C>G (p.Thr135=)
c.*34C>G (n.*34C>G)
n.623C>G
c.291C>G (p.Thr97=)
n.670C>G
dbSNP gnomAD v4
21g.34880621G=CA2387294340RUNX1c.444C= (p.Thr148=)
c.363C= (p.Thr121=)
c.408C= (p.Thr136=)
c.405C= (p.Thr135=)
c.*34C= (n.*34C=)
n.623C=
c.291C= (p.Thr97=)
n.670C=
21g.34880621G>TCA512318726RUNX1c.444C>A (p.Thr148=)
c.363C>A (p.Thr121=)
c.408C>A (p.Thr136=)
c.405C>A (p.Thr135=)
c.*34C>A (n.*34C>A)
n.623C>A
c.291C>A (p.Thr97=)
n.670C>A
21g.34880621_34880623dupCA2830665545RUNX1c.442_444dup (p.Thr148_Ala149insThr)
c.361_363dup (p.Thr121_Ala122insThr)
c.406_408dup (p.Thr136_Ala137insThr)
c.403_405dup (p.Thr135_Ala136insThr)
c.*32_*34dup (n.*32_*34dup)
n.621_623dup
c.289_291dup (p.Thr97_Ala98insThr)
n.668_670dup
21g.34880622_34880640dupCA891842372RUNX1c.426_444dup (p.Ala149Ter)
c.345_363dup (p.Ala122Ter)
c.390_408dup (p.Ala137Ter)
c.387_405dup (p.Ala136Ter)
c.*16_*34dup (n.*16_*34dup)
n.605_623dup
c.273_291dup (p.Ala98Ter)
n.652_670dup
21g.34880622G>ACA410202597RUNX1c.443C>T (p.Thr148Ile)
c.362C>T (p.Thr121Ile)
c.407C>T (p.Thr136Ile)
c.404C>T (p.Thr135Ile)
c.*33C>T (n.*33C>T)
n.622C>T
c.290C>T (p.Thr97Ile)
n.669C>T
ClinVar dbSNP
21g.34880622G>CCA410202598RUNX1c.443C>G (p.Thr148Ser)
c.362C>G (p.Thr121Ser)
c.407C>G (p.Thr136Ser)
c.404C>G (p.Thr135Ser)
c.*33C>G (n.*33C>G)
n.622C>G
c.290C>G (p.Thr97Ser)
n.669C>G
ClinVar dbSNP
21g.34880622G=CA2387294341RUNX1c.443C= (p.Thr148=)
c.362C= (p.Thr121=)
c.407C= (p.Thr136=)
c.404C= (p.Thr135=)
c.*33C= (n.*33C=)
n.622C=
c.290C= (p.Thr97=)
n.669C=
21g.34880622G>TCA410202599RUNX1c.443C>A (p.Thr148Asn)
c.362C>A (p.Thr121Asn)
c.407C>A (p.Thr136Asn)
c.404C>A (p.Thr135Asn)
c.*33C>A (n.*33C>A)
n.622C>A
c.290C>A (p.Thr97Asn)
n.669C>A
dbSNP
21g.34880682_34880683insGGTTAGCCCCGTAGCATTTCTCAGCTCAGCCGAGTAGTTTTCATCATTGCCAGCCATCACAGTGACCAGAGCA645607360RUNX1c.443_444insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala149GlyfsTer8)
c.362_363insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala122GlyfsTer8)
c.407_408insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala137GlyfsTer8)
c.404_405insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala136GlyfsTer8)
c.*33_*34insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (n.*33_*34insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC)
n.622_623insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC
c.290_291insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala98GlyfsTer8)
n.669_670insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC
COSMIC
21g.34880622_34880623insATCTACTCCA645607361RUNX1c.442_443insGAGTAGAT (p.Thr148ArgfsTer7)
c.361_362insGAGTAGAT (p.Thr121ArgfsTer7)
c.406_407insGAGTAGAT (p.Thr136ArgfsTer7)
c.403_404insGAGTAGAT (p.Thr135ArgfsTer7)
c.*32_*33insGAGTAGAT (n.*32_*33insGAGTAGAT)
n.621_622insGAGTAGAT
c.289_290insGAGTAGAT (p.Thr97ArgfsTer7)
n.668_669insGAGTAGAT
COSMIC
21g.34880623T>ACA410202601RUNX1c.442A>T (p.Thr148Ser)
c.361A>T (p.Thr121Ser)
c.406A>T (p.Thr136Ser)
c.403A>T (p.Thr135Ser)
c.*32A>T (n.*32A>T)
n.621A>T
c.289A>T (p.Thr97Ser)
n.668A>T
dbSNP
21g.34880623T>CCA410202602RUNX1c.442A>G (p.Thr148Ala)
c.361A>G (p.Thr121Ala)
c.406A>G (p.Thr136Ala)
c.403A>G (p.Thr135Ala)
c.*32A>G (n.*32A>G)
n.621A>G
c.289A>G (p.Thr97Ala)
n.668A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34880623T>GCA410202600RUNX1c.442A>C (p.Thr148Pro)
c.361A>C (p.Thr121Pro)
c.406A>C (p.Thr136Pro)
c.403A>C (p.Thr135Pro)
c.*32A>C (n.*32A>C)
n.621A>C
c.289A>C (p.Thr97Pro)
n.668A>C
dbSNP gnomAD v2 gnomAD v4
21g.34880623T=CA2387294342RUNX1c.442A= (p.Thr148=)
c.361A= (p.Thr121=)
c.406A= (p.Thr136=)
c.403A= (p.Thr135=)
c.*32A= (n.*32A=)
n.621A=
c.289A= (p.Thr97=)
n.668A=
21g.34880624A=CA2387294343RUNX1c.441T= (p.Ala147=)
c.360T= (p.Ala120=)
c.405T= (p.Ala135=)
c.402T= (p.Ala134=)
c.*31T= (n.*31T=)
n.620T=
c.288T= (p.Ala96=)
n.667T=
21g.34880624A>CCA512318728RUNX1c.441T>G (p.Ala147=)
c.360T>G (p.Ala120=)
c.405T>G (p.Ala135=)
c.402T>G (p.Ala134=)
c.*31T>G (n.*31T>G)
n.620T>G
c.288T>G (p.Ala96=)
n.667T>G
21g.34880624A>GCA10014515RUNX1c.441T>C (p.Ala147=)
c.360T>C (p.Ala120=)
c.405T>C (p.Ala135=)
c.402T>C (p.Ala134=)
c.*31T>C (n.*31T>C)
n.620T>C
c.288T>C (p.Ala96=)
n.667T>C
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880624A>TCA512318729RUNX1c.441T>A (p.Ala147=)
c.360T>A (p.Ala120=)
c.405T>A (p.Ala135=)
c.402T>A (p.Ala134=)
c.*31T>A (n.*31T>A)
n.620T>A
c.288T>A (p.Ala96=)
n.667T>A
dbSNP
21g.34880624dupCA2695202320RUNX1c.441dup (p.Thr148TyrfsTer12)
c.360dup (p.Thr121TyrfsTer12)
c.405dup (p.Thr136TyrfsTer12)
c.402dup (p.Thr135TyrfsTer?)
c.*31dup (n.*31dup)
c.402dup (p.Thr135TyrfsTer12)
n.620dup
c.288dup (p.Thr97TyrfsTer12)
n.667dup
21g.34880627_34880636delCA645607363RUNX1c.432_441del (p.Arg145ProfsTer4)
c.351_360del (p.Arg118ProfsTer4)
c.396_405del (p.Arg133ProfsTer4)
c.393_402del (p.Arg132ProfsTer4)
c.*22_*31del (n.*22_*31del)
n.611_620del
c.279_288del (p.Arg94ProfsTer4)
n.658_667del
COSMIC
21g.34880624_34880642dupCA645607362RUNX1c.423_441dup (p.Thr148GlyfsTer2)
c.342_360dup (p.Thr121GlyfsTer2)
c.387_405dup (p.Thr136GlyfsTer2)
c.384_402dup (p.Thr135GlyfsTer2)
c.*13_*31dup (n.*13_*31dup)
n.602_620dup
c.270_288dup (p.Thr97GlyfsTer2)
n.649_667dup
COSMIC COSMIC
21g.34880625G>ACA410202603RUNX1c.440C>T (p.Ala147Val)
c.359C>T (p.Ala120Val)
c.404C>T (p.Ala135Val)
c.401C>T (p.Ala134Val)
c.*30C>T (n.*30C>T)
n.619C>T
c.287C>T (p.Ala96Val)
n.666C>T
ClinVar dbSNP gnomAD v4
21g.34880625G>CCA410202604RUNX1c.440C>G (p.Ala147Gly)
c.359C>G (p.Ala120Gly)
c.404C>G (p.Ala135Gly)
c.401C>G (p.Ala134Gly)
c.*30C>G (n.*30C>G)
n.619C>G
c.287C>G (p.Ala96Gly)
n.666C>G
ClinVar dbSNP
21g.34880625G>TCA410202605RUNX1c.440C>A (p.Ala147Asp)
c.359C>A (p.Ala120Asp)
c.404C>A (p.Ala135Asp)
c.401C>A (p.Ala134Asp)
c.*30C>A (n.*30C>A)
n.619C>A
c.287C>A (p.Ala96Asp)
n.666C>A
COSMIC
21g.34880625_34880626delinsAAAAGGCACA645607364RUNX1c.439_440delinsTGCCTTTT (p.Ala147delinsCysLeuPhe)
c.358_359delinsTGCCTTTT (p.Ala120delinsCysLeuPhe)
c.403_404delinsTGCCTTTT (p.Ala135delinsCysLeuPhe)
c.400_401delinsTGCCTTTT (p.Ala134delinsCysLeuPhe)
c.*29_*30delinsTGCCTTTT (n.*29_*30delinsTGCCTTTT)
n.618_619delinsTGCCTTTT
c.286_287delinsTGCCTTTT (p.Ala96delinsCysLeuPhe)
n.665_666delinsTGCCTTTT
COSMIC COSMIC
21g.34880626C>ACA410202606RUNX1c.439G>T (p.Ala147Ser)
c.358G>T (p.Ala120Ser)
c.403G>T (p.Ala135Ser)
c.400G>T (p.Ala134Ser)
c.*29G>T (n.*29G>T)
n.618G>T
c.286G>T (p.Ala96Ser)
n.665G>T
dbSNP
21g.34880626C>GCA410202607RUNX1c.439G>C (p.Ala147Pro)
c.358G>C (p.Ala120Pro)
c.403G>C (p.Ala135Pro)
c.400G>C (p.Ala134Pro)
c.*29G>C (n.*29G>C)
n.618G>C
c.286G>C (p.Ala96Pro)
n.665G>C
dbSNP
21g.34880626C>TCA410202608RUNX1c.439G>A (p.Ala147Thr)
c.358G>A (p.Ala120Thr)
c.403G>A (p.Ala135Thr)
c.400G>A (p.Ala134Thr)
c.*29G>A (n.*29G>A)
n.618G>A
c.286G>A (p.Ala96Thr)
n.665G>A
dbSNP
21g.34880626dupCA645607365RUNX1c.439dup (p.Ala147GlyfsTer13)
c.358dup (p.Ala120GlyfsTer13)
c.403dup (p.Ala135GlyfsTer13)
c.400dup (p.Ala134GlyfsTer?)
c.*29dup (n.*29dup)
c.400dup (p.Ala134GlyfsTer13)
n.618dup
c.286dup (p.Ala96GlyfsTer13)
n.665dup
COSMIC
21g.34880628_34880639dupCA2573157359RUNX1c.428_439dup (p.Asn146_Ala147insGluLeuArgAsn)
c.347_358dup (p.Asn119_Ala120insGluLeuArgAsn)
c.392_403dup (p.Asn134_Ala135insGluLeuArgAsn)
c.389_400dup (p.Asn133_Ala134insGluLeuArgAsn)
c.*18_*29dup (n.*18_*29dup)
n.607_618dup
c.275_286dup (p.Asn95_Ala96insGluLeuArgAsn)
n.654_665dup
ClinVar dbSNP
21g.34880627A=CA2387294344RUNX1c.438T= (p.Asn146=)
c.357T= (p.Asn119=)
c.402T= (p.Asn134=)
c.399T= (p.Asn133=)
c.*28T= (n.*28T=)
n.617T=
c.285T= (p.Asn95=)
n.664T=
21g.34880627A>CCA410202609RUNX1c.438T>G (p.Asn146Lys)
c.357T>G (p.Asn119Lys)
c.402T>G (p.Asn134Lys)
c.399T>G (p.Asn133Lys)
c.*28T>G (n.*28T>G)
n.617T>G
c.285T>G (p.Asn95Lys)
n.664T>G
dbSNP COSMIC COSMIC
21g.34880627A>GCA10014516RUNX1c.438T>C (p.Asn146=)
c.357T>C (p.Asn119=)
c.402T>C (p.Asn134=)
c.399T>C (p.Asn133=)
c.*28T>C (n.*28T>C)
n.617T>C
c.285T>C (p.Asn95=)
n.664T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880627A>TCA410202610RUNX1c.438T>A (p.Asn146Lys)
c.357T>A (p.Asn119Lys)
c.402T>A (p.Asn134Lys)
c.399T>A (p.Asn133Lys)
c.*28T>A (n.*28T>A)
n.617T>A
c.285T>A (p.Asn95Lys)
n.664T>A
dbSNP
21g.34880628T>ACA410202611RUNX1c.437A>T (p.Asn146Ile)
c.356A>T (p.Asn119Ile)
c.401A>T (p.Asn134Ile)
c.398A>T (p.Asn133Ile)
c.*27A>T (n.*27A>T)
n.616A>T
c.284A>T (p.Asn95Ile)
n.663A>T
ClinVar dbSNP COSMIC
21g.34880628T>CCA410202612RUNX1c.437A>G (p.Asn146Ser)
c.356A>G (p.Asn119Ser)
c.401A>G (p.Asn134Ser)
c.398A>G (p.Asn133Ser)
c.*27A>G (n.*27A>G)
n.616A>G
c.284A>G (p.Asn95Ser)
n.663A>G
21g.34880628T>GCA410202613RUNX1c.437A>C (p.Asn146Thr)
c.356A>C (p.Asn119Thr)
c.401A>C (p.Asn134Thr)
c.398A>C (p.Asn133Thr)
c.*27A>C (n.*27A>C)
n.616A>C
c.284A>C (p.Asn95Thr)
n.663A>C
COSMIC COSMIC
21g.34880628T=CA2387294345RUNX1c.437A= (p.Asn146=)
c.356A= (p.Asn119=)
c.401A= (p.Asn134=)
c.398A= (p.Asn133=)
c.*27A= (n.*27A=)
n.616A=
c.284A= (p.Asn95=)
n.663A=
21g.34880629T>ACA410202614RUNX1c.436A>T (p.Asn146Tyr)
c.355A>T (p.Asn119Tyr)
c.400A>T (p.Asn134Tyr)
c.397A>T (p.Asn133Tyr)
c.*26A>T (n.*26A>T)
n.615A>T
c.283A>T (p.Asn95Tyr)
n.662A>T
ClinVar dbSNP
21g.34880629T>CCA410202616RUNX1c.436A>G (p.Asn146Asp)
c.355A>G (p.Asn119Asp)
c.400A>G (p.Asn134Asp)
c.397A>G (p.Asn133Asp)
c.*26A>G (n.*26A>G)
n.615A>G
c.283A>G (p.Asn95Asp)
n.662A>G
gnomAD v4
21g.34880629T>GCA410202615RUNX1c.436A>C (p.Asn146His)
c.355A>C (p.Asn119His)
c.400A>C (p.Asn134His)
c.397A>C (p.Asn133His)
c.*26A>C (n.*26A>C)
n.615A>C
c.283A>C (p.Asn95His)
n.662A>C
21g.34880629T=CA2387294346RUNX1c.436A= (p.Asn146=)
c.355A= (p.Asn119=)
c.400A= (p.Asn134=)
c.397A= (p.Asn133=)
c.*26A= (n.*26A=)
n.615A=
c.283A= (p.Asn95=)
n.662A=
21g.34880630T>ACA410202617RUNX1c.435A>T (p.Arg145Ser)
c.354A>T (p.Arg118Ser)
c.399A>T (p.Arg133Ser)
c.396A>T (p.Arg132Ser)
c.*25A>T (n.*25A>T)
n.614A>T
c.282A>T (p.Arg94Ser)
n.661A>T
21g.34880630T>CCA512318730RUNX1c.435A>G (p.Arg145=)
c.354A>G (p.Arg118=)
c.399A>G (p.Arg133=)
c.396A>G (p.Arg132=)
c.*25A>G (n.*25A>G)
n.614A>G
c.282A>G (p.Arg94=)
n.661A>G
21g.34880630T>GCA410202618RUNX1c.435A>C (p.Arg145Ser)
c.354A>C (p.Arg118Ser)
c.399A>C (p.Arg133Ser)
c.396A>C (p.Arg132Ser)
c.*25A>C (n.*25A>C)
n.614A>C
c.282A>C (p.Arg94Ser)
n.661A>C
21g.34880630_34880631insATCTACTCCA645607367RUNX1c.434_435insGAGTAGAT (p.Asn146SerfsTer3)
c.353_354insGAGTAGAT (p.Asn119SerfsTer3)
c.398_399insGAGTAGAT (p.Asn134SerfsTer3)
c.395_396insGAGTAGAT (p.Asn133SerfsTer3)
c.*24_*25insGAGTAGAT (n.*24_*25insGAGTAGAT)
n.613_614insGAGTAGAT
c.281_282insGAGTAGAT (p.Asn95SerfsTer3)
n.660_661insGAGTAGAT
COSMIC
21g.34880631C>ACA410202619RUNX1c.434G>T (p.Arg145Ile)
c.353G>T (p.Arg118Ile)
c.398G>T (p.Arg133Ile)
c.395G>T (p.Arg132Ile)
c.*24G>T (n.*24G>T)
n.613G>T
c.281G>T (p.Arg94Ile)
n.660G>T
21g.34880631C>GCA410202620RUNX1c.434G>C (p.Arg145Thr)
c.353G>C (p.Arg118Thr)
c.398G>C (p.Arg133Thr)
c.395G>C (p.Arg132Thr)
c.*24G>C (n.*24G>C)
n.613G>C
c.281G>C (p.Arg94Thr)
n.660G>C
21g.34880631C>TCA410202621RUNX1c.434G>A (p.Arg145Lys)
c.353G>A (p.Arg118Lys)
c.398G>A (p.Arg133Lys)
c.395G>A (p.Arg132Lys)
c.*24G>A (n.*24G>A)
n.613G>A
c.281G>A (p.Arg94Lys)
n.660G>A
21g.34880637_34880641dupCA645607366RUNX1c.430_434dup (p.Arg145SerfsTer2)
c.349_353dup (p.Arg118SerfsTer2)
c.394_398dup (p.Arg133SerfsTer2)
c.391_395dup (p.Arg132SerfsTer2)
c.*20_*24dup (n.*20_*24dup)
n.609_613dup
c.277_281dup (p.Arg94SerfsTer2)
n.656_660dup
COSMIC COSMIC
21g.34880637_34880641delCA2737753333RUNX1c.430_434del (p.Leu144LysfsTer14)
c.349_353del (p.Leu117LysfsTer14)
c.394_398del (p.Leu132LysfsTer14)
c.391_395del (p.Leu131LysfsTer?)
c.*20_*24del (n.*20_*24del)
c.391_395del (p.Leu131LysfsTer14)
n.609_613del
c.277_281del (p.Leu93LysfsTer14)
n.656_660del
dbSNP
21g.34880632T>ACA410202622RUNX1c.433A>T (p.Arg145Ter)
c.352A>T (p.Arg118Ter)
c.397A>T (p.Arg133Ter)
c.394A>T (p.Arg132Ter)
c.*23A>T (n.*23A>T)
n.612A>T
c.280A>T (p.Arg94Ter)
n.659A>T
dbSNP
21g.34880632T>CCA16616277RUNX1c.433A>G (p.Arg145Gly)
c.352A>G (p.Arg118Gly)
c.397A>G (p.Arg133Gly)
c.394A>G (p.Arg132Gly)
c.*23A>G (n.*23A>G)
n.612A>G
c.280A>G (p.Arg94Gly)
n.659A>G
ClinVar dbSNP COSMIC
21g.34880632T>GCA10014517RUNX1c.433A>C (p.Arg145=)
c.352A>C (p.Arg118=)
c.397A>C (p.Arg133=)
c.394A>C (p.Arg132=)
c.*23A>C (n.*23A>C)
n.612A>C
c.280A>C (p.Arg94=)
n.659A>C
ClinVar dbSNP ExAC
21g.34880632T=CA2387294347RUNX1c.433A= (p.Arg145=)
c.352A= (p.Arg118=)
c.397A= (p.Arg133=)
c.394A= (p.Arg132=)
c.*23A= (n.*23A=)
n.612A=
c.280A= (p.Arg94=)
n.659A=
21g.34880633C>ACA512318732RUNX1c.432G>T (p.Leu144=)
c.351G>T (p.Leu117=)
c.396G>T (p.Leu132=)
c.393G>T (p.Leu131=)
c.*22G>T (n.*22G>T)
n.611G>T
c.279G>T (p.Leu93=)
n.658G>T
dbSNP
21g.34880633C>GCA512318733RUNX1c.432G>C (p.Leu144=)
c.351G>C (p.Leu117=)
c.396G>C (p.Leu132=)
c.393G>C (p.Leu131=)
c.*22G>C (n.*22G>C)
n.611G>C
c.279G>C (p.Leu93=)
n.658G>C
dbSNP
21g.34880633C>TCA512318731RUNX1c.432G>A (p.Leu144=)
c.351G>A (p.Leu117=)
c.396G>A (p.Leu132=)
c.393G>A (p.Leu131=)
c.*22G>A (n.*22G>A)
n.611G>A
c.279G>A (p.Leu93=)
n.658G>A
ClinVar dbSNP
21g.34880633_34880641delinsGGGGGTCA645607368RUNX1c.424_432delinsACCCCC (p.Ala142_Leu144delinsThrPro)
c.343_351delinsACCCCC (p.Ala115_Leu117delinsThrPro)
c.388_396delinsACCCCC (p.Ala130_Leu132delinsThrPro)
c.385_393delinsACCCCC (p.Ala129_Leu131delinsThrPro)
c.*14_*22delinsACCCCC (n.*14_*22delinsACCCCC)
n.603_611delinsACCCCC
c.271_279delinsACCCCC (p.Ala91_Leu93delinsThrPro)
n.650_658delinsACCCCC
COSMIC
21g.34880634A=CA2387294348RUNX1c.431T= (p.Leu144=)
c.350T= (p.Leu117=)
c.395T= (p.Leu132=)
c.392T= (p.Leu131=)
c.*21T= (n.*21T=)
n.610T=
c.278T= (p.Leu93=)
n.657T=
21g.34880634A>CCA410202623RUNX1c.431T>G (p.Leu144Arg)
c.350T>G (p.Leu117Arg)
c.395T>G (p.Leu132Arg)
c.392T>G (p.Leu131Arg)
c.*21T>G (n.*21T>G)
n.610T>G
c.278T>G (p.Leu93Arg)
n.657T>G
21g.34880634A>GCA320637976RUNX1c.431T>C (p.Leu144Pro)
c.350T>C (p.Leu117Pro)
c.395T>C (p.Leu132Pro)
c.392T>C (p.Leu131Pro)
c.*21T>C (n.*21T>C)
n.610T>C
c.278T>C (p.Leu93Pro)
n.657T>C
ClinVar dbSNP COSMIC
21g.34880634A>TCA410202624RUNX1c.431T>A (p.Leu144Gln)
c.350T>A (p.Leu117Gln)
c.395T>A (p.Leu132Gln)
c.392T>A (p.Leu131Gln)
c.*21T>A (n.*21T>A)
n.610T>A
c.278T>A (p.Leu93Gln)
n.657T>A
dbSNP
21g.34880651_34880652insGGAAGCTCAGCCGAGTAGTTTCA2695202658RUNX1c.431_432insTCCAAACTACTCGGCTGAGCT (p.Leu144_Arg145insProAsnTyrSerAlaGluLeu)
c.350_351insTCCAAACTACTCGGCTGAGCT (p.Leu117_Arg118insProAsnTyrSerAlaGluLeu)
c.395_396insTCCAAACTACTCGGCTGAGCT (p.Leu132_Arg133insProAsnTyrSerAlaGluLeu)
c.392_393insTCCAAACTACTCGGCTGAGCT (p.Leu131_Arg132insProAsnTyrSerAlaGluLeu)
c.*21_*22insTCCAAACTACTCGGCTGAGCT (n.*21_*22insTCCAAACTACTCGGCTGAGCT)
n.610_611insTCCAAACTACTCGGCTGAGCT
c.278_279insTCCAAACTACTCGGCTGAGCT (p.Leu93_Arg94insProAsnTyrSerAlaGluLeu)
n.657_658insTCCAAACTACTCGGCTGAGCT
21g.34880635G>ACA512318734RUNX1c.430C>T (p.Leu144=)
c.349C>T (p.Leu117=)
c.394C>T (p.Leu132=)
c.391C>T (p.Leu131=)
c.*20C>T (n.*20C>T)
n.609C>T
c.277C>T (p.Leu93=)
n.656C>T
ClinVar dbSNP
21g.34880635G>CCA410202625RUNX1c.430C>G (p.Leu144Val)
c.349C>G (p.Leu117Val)
c.394C>G (p.Leu132Val)
c.391C>G (p.Leu131Val)
c.*20C>G (n.*20C>G)
n.609C>G
c.277C>G (p.Leu93Val)
n.656C>G
dbSNP
21g.34880635G>TCA410202626RUNX1c.430C>A (p.Leu144Met)
c.349C>A (p.Leu117Met)
c.394C>A (p.Leu132Met)
c.391C>A (p.Leu131Met)
c.*20C>A (n.*20C>A)
n.609C>A
c.277C>A (p.Leu93Met)
n.656C>A
dbSNP
21g.34880636C>ACA410202627RUNX1c.429G>T (p.Glu143Asp)
c.348G>T (p.Glu116Asp)
c.393G>T (p.Glu131Asp)
c.390G>T (p.Glu130Asp)
c.*19G>T (n.*19G>T)
n.608G>T
c.276G>T (p.Glu92Asp)
n.655G>T
dbSNP
21g.34880636C>GCA410202628RUNX1c.429G>C (p.Glu143Asp)
c.348G>C (p.Glu116Asp)
c.393G>C (p.Glu131Asp)
c.390G>C (p.Glu130Asp)
c.*19G>C (n.*19G>C)
n.608G>C
c.276G>C (p.Glu92Asp)
n.655G>C
dbSNP
21g.34880636C>TCA512318735RUNX1c.429G>A (p.Glu143=)
c.348G>A (p.Glu116=)
c.393G>A (p.Glu131=)
c.390G>A (p.Glu130=)
c.*19G>A (n.*19G>A)
n.608G>A
c.276G>A (p.Glu92=)
n.655G>A
21g.34880637_34880638delCA2580618078RUNX1c.428_429del (p.Glu143AlafsTer16)
c.347_348del (p.Glu116AlafsTer16)
c.392_393del (p.Glu131AlafsTer16)
c.389_390del (p.Glu130AlafsTer?)
c.*18_*19del (n.*18_*19del)
c.389_390del (p.Glu130AlafsTer16)
n.607_608del
c.275_276del (p.Glu92AlafsTer16)
n.654_655del
21g.34880636_34880642delCA645607369RUNX1c.423_429del (p.Ala142Ter)
c.342_348del (p.Ala115Ter)
c.387_393del (p.Ala130Ter)
c.384_390del (p.Ala129Ter)
c.*13_*19del (n.*13_*19del)
n.602_608del
c.270_276del (p.Ala91Ter)
n.649_655del
COSMIC COSMIC
21g.34880637delCA2695202659RUNX1c.428del (p.Glu143GlyfsTer2)
c.347del (p.Glu116GlyfsTer2)
c.392del (p.Glu131GlyfsTer2)
c.389del (p.Glu130GlyfsTer2)
c.*18del (n.*18del)
n.607del
c.275del (p.Glu92GlyfsTer2)
n.654del
21g.34880637T>ACA410202629RUNX1c.428A>T (p.Glu143Val)
c.347A>T (p.Glu116Val)
c.392A>T (p.Glu131Val)
c.389A>T (p.Glu130Val)
c.*18A>T (n.*18A>T)
n.607A>T
c.275A>T (p.Glu92Val)
n.654A>T
dbSNP
21g.34880637T>CCA410202631RUNX1c.428A>G (p.Glu143Gly)
c.347A>G (p.Glu116Gly)
c.392A>G (p.Glu131Gly)
c.389A>G (p.Glu130Gly)
c.*18A>G (n.*18A>G)
n.607A>G
c.275A>G (p.Glu92Gly)
n.654A>G
dbSNP
21g.34880637T>GCA410202630RUNX1c.428A>C (p.Glu143Ala)
c.347A>C (p.Glu116Ala)
c.392A>C (p.Glu131Ala)
c.389A>C (p.Glu130Ala)
c.*18A>C (n.*18A>C)
n.607A>C
c.275A>C (p.Glu92Ala)
n.654A>C
21g.34880644_34880645insAAGGAGTCAGCCGACA645607370RUNX1c.428_429insCTCCTTTCGGCTGA (p.Glu143AspfsTer7)
c.347_348insCTCCTTTCGGCTGA (p.Glu116AspfsTer7)
c.392_393insCTCCTTTCGGCTGA (p.Glu131AspfsTer7)
c.389_390insCTCCTTTCGGCTGA (p.Glu130AspfsTer7)
c.*18_*19insCTCCTTTCGGCTGA (n.*18_*19insCTCCTTTCGGCTGA)
n.607_608insCTCCTTTCGGCTGA
c.275_276insCTCCTTTCGGCTGA (p.Glu92AspfsTer7)
n.654_655insCTCCTTTCGGCTGA
COSMIC
21g.34880638C>ACA410202632RUNX1c.427G>T (p.Glu143Ter)
c.346G>T (p.Glu116Ter)
c.391G>T (p.Glu131Ter)
c.388G>T (p.Glu130Ter)
c.*17G>T (n.*17G>T)
n.606G>T
c.274G>T (p.Glu92Ter)
n.653G>T
21g.34880638C>GCA410202634RUNX1c.427G>C (p.Glu143Gln)
c.346G>C (p.Glu116Gln)
c.391G>C (p.Glu131Gln)
c.388G>C (p.Glu130Gln)
c.*17G>C (n.*17G>C)
n.606G>C
c.274G>C (p.Glu92Gln)
n.653G>C
dbSNP
21g.34880638C>TCA410202633RUNX1c.427G>A (p.Glu143Lys)
c.346G>A (p.Glu116Lys)
c.391G>A (p.Glu131Lys)
c.388G>A (p.Glu130Lys)
c.*17G>A (n.*17G>A)
n.606G>A
c.274G>A (p.Glu92Lys)
n.653G>A
dbSNP
21g.34880638_34880662dupCA645607371RUNX1c.403_427dup (p.Glu143GlyfsTer3)
c.322_346dup (p.Glu116GlyfsTer3)
c.367_391dup (p.Glu131GlyfsTer3)
c.364_388dup (p.Glu130GlyfsTer3)
c.110_*17dup (n.110_*17dup)
n.582_606dup
c.250_274dup (p.Glu92GlyfsTer3)
n.629_653dup
COSMIC
21g.34880639A=CA2387294349RUNX1c.426T= (p.Ala142=)
c.345T= (p.Ala115=)
c.390T= (p.Ala130=)
c.387T= (p.Ala129=)
c.*16T= (n.*16T=)
n.605T=
c.273T= (p.Ala91=)
n.652T=
21g.34880639A>CCA512318736RUNX1c.426T>G (p.Ala142=)
c.345T>G (p.Ala115=)
c.390T>G (p.Ala130=)
c.387T>G (p.Ala129=)
c.*16T>G (n.*16T>G)
n.605T>G
c.273T>G (p.Ala91=)
n.652T>G
21g.34880639A>GCA10014518RUNX1c.426T>C (p.Ala142=)
c.345T>C (p.Ala115=)
c.390T>C (p.Ala130=)
c.387T>C (p.Ala129=)
c.*16T>C (n.*16T>C)
n.605T>C
c.273T>C (p.Ala91=)
n.652T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880639A>TCA512318737RUNX1c.426T>A (p.Ala142=)
c.345T>A (p.Ala115=)
c.390T>A (p.Ala130=)
c.387T>A (p.Ala129=)
c.*16T>A (n.*16T>A)
n.605T>A
c.273T>A (p.Ala91=)
n.652T>A
dbSNP
21g.34880641_34880645delCA2579985606RUNX1c.422_426del (p.Ser141Ter)
c.341_345del (p.Ser114Ter)
c.386_390del (p.Ser129Ter)
c.383_387del (p.Ser128Ter)
c.*12_*16del (n.*12_*16del)
n.601_605del
c.269_273del (p.Ser90Ter)
n.648_652del
21g.34880639_34880640insCCATCCCA645607372RUNX1c.425_426insGGATGG (p.Ala142_Glu143insAspGly)
c.344_345insGGATGG (p.Ala115_Glu116insAspGly)
c.389_390insGGATGG (p.Ala130_Glu131insAspGly)
c.386_387insGGATGG (p.Ala129_Glu130insAspGly)
c.*15_*16insGGATGG (n.*15_*16insGGATGG)
n.604_605insGGATGG
c.272_273insGGATGG (p.Ala91_Glu92insAspGly)
n.651_652insGGATGG
COSMIC
21g.34880640G>ACA410202637RUNX1c.425C>T (p.Ala142Val)
c.344C>T (p.Ala115Val)
c.389C>T (p.Ala130Val)
c.386C>T (p.Ala129Val)
c.*15C>T (n.*15C>T)
n.604C>T
c.272C>T (p.Ala91Val)
n.651C>T
dbSNP
21g.34880640G>CCA410202635RUNX1c.425C>G (p.Ala142Gly)
c.344C>G (p.Ala115Gly)
c.389C>G (p.Ala130Gly)
c.386C>G (p.Ala129Gly)
c.*15C>G (n.*15C>G)
n.604C>G
c.272C>G (p.Ala91Gly)
n.651C>G
dbSNP
21g.34880640G=CA2387294350RUNX1c.425C= (p.Ala142=)
c.344C= (p.Ala115=)
c.389C= (p.Ala130=)
c.386C= (p.Ala129=)
c.*15C= (n.*15C=)
n.604C=
c.272C= (p.Ala91=)
n.651C=
21g.34880640G>TCA410202636RUNX1c.425C>A (p.Ala142Asp)
c.344C>A (p.Ala115Asp)
c.389C>A (p.Ala130Asp)
c.386C>A (p.Ala129Asp)
c.*15C>A (n.*15C>A)
n.604C>A
c.272C>A (p.Ala91Asp)
n.651C>A
dbSNP COSMIC COSMIC
21g.34880640_34880642delinsAGGCA2580618079RUNX1c.423_425delinsCCT (p.Ala142Leu)
c.342_344delinsCCT (p.Ala115Leu)
c.387_389delinsCCT (p.Ala130Leu)
c.384_386delinsCCT (p.Ala129Leu)
c.*13_*15delinsCCT (n.*13_*15delinsCCT)
n.602_604delinsCCT
c.270_272delinsCCT (p.Ala91Leu)
n.649_651delinsCCT
21g.34880640_34880643dupCA645607373RUNX1c.422_425dup (p.Glu143GlyfsTer2)
c.341_344dup (p.Glu116GlyfsTer2)
c.386_389dup (p.Glu131GlyfsTer2)
c.383_386dup (p.Glu130GlyfsTer2)
c.*12_*15dup (n.*12_*15dup)
n.601_604dup
c.269_272dup (p.Glu92GlyfsTer2)
n.648_651dup
COSMIC
21g.34880640_34880641insGGGACA645607377RUNX1c.424_425insTCCC (p.Ala142ValfsTer3)
c.343_344insTCCC (p.Ala115ValfsTer3)
c.388_389insTCCC (p.Ala130ValfsTer3)
c.385_386insTCCC (p.Ala129ValfsTer3)
c.*14_*15insTCCC (n.*14_*15insTCCC)
n.603_604insTCCC
c.271_272insTCCC (p.Ala91ValfsTer3)
n.650_651insTCCC
COSMIC
21g.34880641C>ACA410202638RUNX1c.424G>T (p.Ala142Ser)
c.343G>T (p.Ala115Ser)
c.388G>T (p.Ala130Ser)
c.385G>T (p.Ala129Ser)
c.*14G>T (n.*14G>T)
n.603G>T
c.271G>T (p.Ala91Ser)
n.650G>T
dbSNP
21g.34880641C>GCA410202639RUNX1c.424G>C (p.Ala142Pro)
c.343G>C (p.Ala115Pro)
c.388G>C (p.Ala130Pro)
c.385G>C (p.Ala129Pro)
c.*14G>C (n.*14G>C)
n.603G>C
c.271G>C (p.Ala91Pro)
n.650G>C
dbSNP
21g.34880641C>TCA410202640RUNX1c.424G>A (p.Ala142Thr)
c.343G>A (p.Ala115Thr)
c.388G>A (p.Ala130Thr)
c.385G>A (p.Ala129Thr)
c.*14G>A (n.*14G>A)
n.603G>A
c.271G>A (p.Ala91Thr)
n.650G>A
dbSNP
21g.34880641_34880642insAACCCA1139771064RUNX1c.424_425insGTTG (p.Ala142GlyfsTer3)
c.343_344insGTTG (p.Ala115GlyfsTer3)
c.388_389insGTTG (p.Ala130GlyfsTer3)
c.385_386insGTTG (p.Ala129GlyfsTer3)
c.*14_*15insGTTG (n.*14_*15insGTTG)
n.603_604insGTTG
c.271_272insGTTG (p.Ala91GlyfsTer3)
n.650_651insGTTG
21g.34880641_34880642insAAATCCA645607379RUNX1c.424_425insATTTG (p.Ala142AspfsTer5)
c.343_344insATTTG (p.Ala115AspfsTer5)
c.388_389insATTTG (p.Ala130AspfsTer5)
c.385_386insATTTG (p.Ala129AspfsTer5)
c.*14_*15insATTTG (n.*14_*15insATTTG)
n.603_604insATTTG
c.271_272insATTTG (p.Ala91AspfsTer5)
n.650_651insATTTG
COSMIC
21g.34880641_34880642delCA2580618080RUNX1c.423_424del (p.Ala142Ter)
c.342_343del (p.Ala115Ter)
c.387_388del (p.Ala130Ter)
c.384_385del (p.Ala129Ter)
c.*13_*14del (n.*13_*14del)
n.602_603del
c.270_271del (p.Ala91Ter)
n.649_650del
21g.34880642_34880643insCCCCA645607376RUNX1c.424_425insGGG (p.Ser141_Ala142insGly)
c.343_344insGGG (p.Ser114_Ala115insGly)
c.388_389insGGG (p.Ser129_Ala130insGly)
c.385_386insGGG (p.Ser128_Ala129insGly)
c.*14_*15insGGG (n.*14_*15insGGG)
n.603_604insGGG
c.271_272insGGG (p.Ser90_Ala91insGly)
n.650_651insGGG
COSMIC
21g.34880642_34880643insAACCCA1139771063RUNX1c.424_425insTTGG (p.Ala142ValfsTer3)
c.343_344insTTGG (p.Ala115ValfsTer3)
c.388_389insTTGG (p.Ala130ValfsTer3)
c.385_386insTTGG (p.Ala129ValfsTer3)
c.*14_*15insTTGG (n.*14_*15insTTGG)
n.603_604insTTGG
c.271_272insTTGG (p.Ala91ValfsTer3)
n.650_651insTTGG
21g.34880642_34880643insTGCCCCCCA645607375RUNX1c.424_425insGGGCAGG (p.Ala142GlyfsTer4)
c.343_344insGGGCAGG (p.Ala115GlyfsTer4)
c.388_389insGGGCAGG (p.Ala130GlyfsTer4)
c.385_386insGGGCAGG (p.Ala129GlyfsTer4)
c.*14_*15insGGGCAGG (n.*14_*15insGGGCAGG)
n.603_604insGGGCAGG
c.271_272insGGGCAGG (p.Ala91GlyfsTer4)
n.650_651insGGGCAGG
COSMIC COSMIC
21g.34880642dupCA658824419RUNX1c.424dup (p.Ala142GlyfsTer2)
c.343dup (p.Ala115GlyfsTer2)
c.388dup (p.Ala130GlyfsTer2)
c.385dup (p.Ala129GlyfsTer2)
c.*14dup (n.*14dup)
n.603dup
c.271dup (p.Ala91GlyfsTer2)
n.650dup
ClinVar dbSNP
21g.34880641_34880642dupCA645607378RUNX1c.423_424dup (p.Ala142GlyfsTer4)
c.342_343dup (p.Ala115GlyfsTer4)
c.387_388dup (p.Ala130GlyfsTer4)
c.384_385dup (p.Ala129GlyfsTer4)
c.*13_*14dup (n.*13_*14dup)
n.602_603dup
c.270_271dup (p.Ala91GlyfsTer4)
n.649_650dup
COSMIC
21g.34880642delCA645607374RUNX1c.424del (p.Ala142LeufsTer3)
c.343del (p.Ala115LeufsTer3)
c.388del (p.Ala130LeufsTer3)
c.385del (p.Ala129LeufsTer3)
c.*14del (n.*14del)
n.603del
c.271del (p.Ala91LeufsTer3)
n.650del
ClinVar COSMIC COSMIC
21g.34880643_34880644insGGTCCGCA2573335146RUNX1c.424_425insACCCGG (p.Ser141_Ala142insAspPro)
c.343_344insACCCGG (p.Ser114_Ala115insAspPro)
c.388_389insACCCGG (p.Ser129_Ala130insAspPro)
c.385_386insACCCGG (p.Ser128_Ala129insAspPro)
c.*14_*15insACCCGG (n.*14_*15insACCCGG)
n.603_604insACCCGG
c.271_272insACCCGG (p.Ser90_Ala91insAspPro)
n.650_651insACCCGG
21g.34880641_34880642insGGCA645607384RUNX1c.423_424insCC (p.Ala142ProfsTer4)
c.342_343insCC (p.Ala115ProfsTer4)
c.387_388insCC (p.Ala130ProfsTer4)
c.384_385insCC (p.Ala129ProfsTer4)
c.*13_*14insCC (n.*13_*14insCC)
n.602_603insCC
c.270_271insCC (p.Ala91ProfsTer4)
n.649_650insCC
COSMIC COSMIC
21g.34880641_34880642insTTCA645607381RUNX1c.423_424insAA (p.Ala142LysfsTer4)
c.342_343insAA (p.Ala115LysfsTer4)
c.387_388insAA (p.Ala130LysfsTer4)
c.384_385insAA (p.Ala129LysfsTer4)
c.*13_*14insAA (n.*13_*14insAA)
n.602_603insAA
c.270_271insAA (p.Ala91LysfsTer4)
n.649_650insAA
COSMIC COSMIC
21g.34880641_34880642insGGGCA645607383RUNX1c.423_424insCCC (p.Ser141_Ala142insPro)
c.342_343insCCC (p.Ser114_Ala115insPro)
c.387_388insCCC (p.Ser129_Ala130insPro)
c.384_385insCCC (p.Ser128_Ala129insPro)
c.*13_*14insCCC (n.*13_*14insCCC)
n.602_603insCCC
c.270_271insCCC (p.Ser90_Ala91insPro)
n.649_650insCCC
COSMIC
21g.34880641_34880642insGGTTCA1139771060RUNX1c.423_424insAACC (p.Ala142AsnfsTer3)
c.342_343insAACC (p.Ala115AsnfsTer3)
c.387_388insAACC (p.Ala130AsnfsTer3)
c.384_385insAACC (p.Ala129AsnfsTer3)
c.*13_*14insAACC (n.*13_*14insAACC)
n.602_603insAACC
c.270_271insAACC (p.Ala91AsnfsTer3)
n.649_650insAACC
21g.34880641_34880642insGGAACAGACTTCTTCA645607382RUNX1c.423_424insAAGAAGTCTGTTCC (p.Ala142LysfsTer8)
c.342_343insAAGAAGTCTGTTCC (p.Ala115LysfsTer8)
c.387_388insAAGAAGTCTGTTCC (p.Ala130LysfsTer8)
c.384_385insAAGAAGTCTGTTCC (p.Ala129LysfsTer8)
c.*13_*14insAAGAAGTCTGTTCC (n.*13_*14insAAGAAGTCTGTTCC)
n.602_603insAAGAAGTCTGTTCC
c.270_271insAAGAAGTCTGTTCC (p.Ala91LysfsTer8)
n.649_650insAAGAAGTCTGTTCC
COSMIC
21g.34880642C>ACA512318738RUNX1c.423G>T (p.Ser141=)
c.342G>T (p.Ser114=)
c.387G>T (p.Ser129=)
c.384G>T (p.Ser128=)
c.*13G>T (n.*13G>T)
n.602G>T
c.270G>T (p.Ser90=)
n.649G>T
dbSNP
21g.34880642C=CA2387294351RUNX1c.423G= (p.Ser141=)
c.342G= (p.Ser114=)
c.387G= (p.Ser129=)
c.384G= (p.Ser128=)
c.*13G= (n.*13G=)
n.602G=
c.270G= (p.Ser90=)
n.649G=
21g.34880642C>GCA512318739RUNX1c.423G>C (p.Ser141=)
c.342G>C (p.Ser114=)
c.387G>C (p.Ser129=)
c.384G>C (p.Ser128=)
c.*13G>C (n.*13G>C)
n.602G>C
c.270G>C (p.Ser90=)
n.649G>C
ClinVar dbSNP
21g.34880642C>TCA10014519RUNX1c.423G>A (p.Ser141=)
c.342G>A (p.Ser114=)
c.387G>A (p.Ser129=)
c.384G>A (p.Ser128=)
c.*13G>A (n.*13G>A)
n.602G>A
c.270G>A (p.Ser90=)
n.649G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880642delinsGGAAGGCA645607380RUNX1c.423delinsCCTTCC (p.Ala142LeufsTer5)
c.342delinsCCTTCC (p.Ala115LeufsTer5)
c.387delinsCCTTCC (p.Ala130LeufsTer5)
c.384delinsCCTTCC (p.Ala129LeufsTer5)
c.*13delinsCCTTCC (n.*13delinsCCTTCC)
n.602delinsCCTTCC
c.270delinsCCTTCC (p.Ala91LeufsTer5)
n.649delinsCCTTCC
COSMIC
21g.34880642_34880643insACA645607388RUNX1c.422_423insT (p.Ala142GlyfsTer2)
c.341_342insT (p.Ala115GlyfsTer2)
c.386_387insT (p.Ala130GlyfsTer2)
c.383_384insT (p.Ala129GlyfsTer2)
c.*12_*13insT (n.*12_*13insT)
n.601_602insT
c.269_270insT (p.Ala91GlyfsTer2)
n.648_649insT
COSMIC COSMIC
21g.34880642_34880643insAACA645607386RUNX1c.422_423insTT (p.Ala142TrpfsTer4)
c.341_342insTT (p.Ala115TrpfsTer4)
c.386_387insTT (p.Ala130TrpfsTer4)
c.383_384insTT (p.Ala129TrpfsTer4)
c.*12_*13insTT (n.*12_*13insTT)
n.601_602insTT
c.269_270insTT (p.Ala91TrpfsTer4)
n.648_649insTT
COSMIC COSMIC
21g.34880642_34880643insAGGCA645607391RUNX1c.422_423insCCT (p.Ser141_Ala142insLeu)
c.341_342insCCT (p.Ser114_Ala115insLeu)
c.386_387insCCT (p.Ser129_Ala130insLeu)
c.383_384insCCT (p.Ser128_Ala129insLeu)
c.*12_*13insCCT (n.*12_*13insCCT)
n.601_602insCCT
c.269_270insCCT (p.Ser90_Ala91insLeu)
n.648_649insCCT
COSMIC COSMIC
21g.34880642_34880643insCTTTTATTCCGATTCCCCTTGTCCGAAGGTATCA2580098645RUNX1c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142TyrfsTer14)
c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala115TyrfsTer14)
c.386_387insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala130TyrfsTer14)
c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala129TyrfsTer14)
c.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAAG (n.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAAG)
n.601_602insATACCTTCGGACAAGGGGAATCGGAATAAAAG
c.269_270insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala91TyrfsTer14)
n.648_649insATACCTTCGGACAAGGGGAATCGGAATAAAAG
ClinVar
21g.34880643delCA512318740RUNX1c.422del (p.Ser141TrpfsTer4)
c.341del (p.Ser114TrpfsTer4)
c.386del (p.Ser129TrpfsTer4)
c.383del (p.Ser128TrpfsTer4)
c.*12del (n.*12del)
n.601del
c.269del (p.Ser90TrpfsTer4)
n.648del
COSMIC
21g.34880643G>ACA410202641RUNX1c.422C>T (p.Ser141Leu)
c.341C>T (p.Ser114Leu)
c.386C>T (p.Ser129Leu)
c.383C>T (p.Ser128Leu)
c.*12C>T (n.*12C>T)
n.601C>T
c.269C>T (p.Ser90Leu)
n.648C>T
ClinVar dbSNP COSMIC COSMIC
21g.34880643G>CCA410202642RUNX1c.422C>G (p.Ser141Trp)
c.341C>G (p.Ser114Trp)
c.386C>G (p.Ser129Trp)
c.383C>G (p.Ser128Trp)
c.*12C>G (n.*12C>G)
n.601C>G
c.269C>G (p.Ser90Trp)
n.648C>G
dbSNP
21g.34880643G=CA2387294352RUNX1c.422C= (p.Ser141=)
c.341C= (p.Ser114=)
c.386C= (p.Ser129=)
c.383C= (p.Ser128=)
c.*12C= (n.*12C=)
n.601C=
c.269C= (p.Ser90=)
n.648C=
21g.34880643G>TCA410202643RUNX1c.422C>A (p.Ser141Ter)
c.341C>A (p.Ser114Ter)
c.386C>A (p.Ser129Ter)
c.383C>A (p.Ser128Ter)
c.*12C>A (n.*12C>A)
n.601C>A
c.269C>A (p.Ser90Ter)
n.648C>A
ClinVar dbSNP COSMIC COSMIC
21g.34880643_34880644insCCTGCA645607390RUNX1c.422_423insAGGC (p.Ala142GlyfsTer3)
c.341_342insAGGC (p.Ala115GlyfsTer3)
c.386_387insAGGC (p.Ala130GlyfsTer3)
c.383_384insAGGC (p.Ala129GlyfsTer3)
c.*12_*13insAGGC (n.*12_*13insAGGC)
n.601_602insAGGC
c.269_270insAGGC (p.Ala91GlyfsTer3)
n.648_649insAGGC
COSMIC
21g.34880643_34880644insGTTGCA1139771069RUNX1c.422_423insAACC (p.Ala142ThrfsTer3)
c.341_342insAACC (p.Ala115ThrfsTer3)
c.386_387insAACC (p.Ala130ThrfsTer3)
c.383_384insAACC (p.Ala129ThrfsTer3)
c.*12_*13insAACC (n.*12_*13insAACC)
n.601_602insAACC
c.269_270insAACC (p.Ala91ThrfsTer3)
n.648_649insAACC
21g.34880643_34880644insGCCTGCA2573130354RUNX1c.422_423insAGGCC (p.Ala142GlyfsTer5)
c.341_342insAGGCC (p.Ala115GlyfsTer5)
c.386_387insAGGCC (p.Ala130GlyfsTer5)
c.383_384insAGGCC (p.Ala129GlyfsTer5)
c.*12_*13insAGGCC (n.*12_*13insAGGCC)
n.601_602insAGGCC
c.269_270insAGGCC (p.Ala91GlyfsTer5)
n.648_649insAGGCC
21g.34880643_34880644insGCCTTGCA658820618RUNX1c.422_423insAAGGCC (p.Ser141_Ala142insArgPro)
c.341_342insAAGGCC (p.Ser114_Ala115insArgPro)
c.386_387insAAGGCC (p.Ser129_Ala130insArgPro)
c.383_384insAAGGCC (p.Ser128_Ala129insArgPro)
c.*12_*13insAAGGCC (n.*12_*13insAAGGCC)
n.601_602insAAGGCC
c.269_270insAAGGCC (p.Ser90_Ala91insArgPro)
n.648_649insAAGGCC
21g.34880643_34880644insGTCCAGCA645607387RUNX1c.422_423insTGGACC (p.Ser141_Ala142insGlyPro)
c.341_342insTGGACC (p.Ser114_Ala115insGlyPro)
c.386_387insTGGACC (p.Ser129_Ala130insGlyPro)
c.383_384insTGGACC (p.Ser128_Ala129insGlyPro)
c.*12_*13insTGGACC (n.*12_*13insTGGACC)
n.601_602insTGGACC
c.269_270insTGGACC (p.Ser90_Ala91insGlyPro)
n.648_649insTGGACC
COSMIC COSMIC
21g.34880643dupCA645607389RUNX1c.422dup (p.Ala142GlyfsTer2)
c.341dup (p.Ala115GlyfsTer2)
c.386dup (p.Ala130GlyfsTer2)
c.383dup (p.Ala129GlyfsTer2)
c.*12dup (n.*12dup)
n.601dup
c.269dup (p.Ala91GlyfsTer2)
n.648dup
COSMIC
21g.34880643_34880644insCCA512318741RUNX1c.421_422insG (p.Ser141CysfsTer3)
c.340_341insG (p.Ser114CysfsTer3)
c.385_386insG (p.Ser129CysfsTer3)
c.382_383insG (p.Ser128CysfsTer3)
c.*11_*12insG (n.*11_*12insG)
n.600_601insG
c.268_269insG (p.Ser90CysfsTer3)
n.647_648insG
21g.34880644A=CA2387294353RUNX1c.421T= (p.Ser141=)
c.340T= (p.Ser114=)
c.385T= (p.Ser129=)
c.382T= (p.Ser128=)
c.*11T= (n.*11T=)
n.600T=
c.268T= (p.Ser90=)
n.647T=
21g.34880644A>CCA410202644RUNX1c.421T>G (p.Ser141Ala)
c.340T>G (p.Ser114Ala)
c.385T>G (p.Ser129Ala)
c.382T>G (p.Ser128Ala)
c.*11T>G (n.*11T>G)
n.600T>G
c.268T>G (p.Ser90Ala)
n.647T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34880644A>GCA410202645RUNX1c.421T>C (p.Ser141Pro)
c.340T>C (p.Ser114Pro)
c.385T>C (p.Ser129Pro)
c.382T>C (p.Ser128Pro)
c.*11T>C (n.*11T>C)
n.600T>C
c.268T>C (p.Ser90Pro)
n.647T>C
ClinVar COSMIC
21g.34880644A>TCA410202646RUNX1c.421T>A (p.Ser141Thr)
c.340T>A (p.Ser114Thr)
c.385T>A (p.Ser129Thr)
c.382T>A (p.Ser128Thr)
c.*11T>A (n.*11T>A)
n.600T>A
c.268T>A (p.Ser90Thr)
n.647T>A
dbSNP
21g.34880644_34880645insACCACA1139771062RUNX1c.421_422insGGTT (p.Ser141TrpfsTer4)
c.340_341insGGTT (p.Ser114TrpfsTer4)
c.385_386insGGTT (p.Ser129TrpfsTer4)
c.382_383insGGTT (p.Ser128TrpfsTer4)
c.*11_*12insGGTT (n.*11_*12insGGTT)
n.600_601insGGTT
c.268_269insGGTT (p.Ser90TrpfsTer4)
n.647_648insGGTT
21g.34880644_34880645insAACCCA1139771061RUNX1c.420_421insGGTT (p.Ser141GlyfsTer4)
c.339_340insGGTT (p.Ser114GlyfsTer4)
c.384_385insGGTT (p.Ser129GlyfsTer4)
c.381_382insGGTT (p.Ser128GlyfsTer4)
c.*10_*11insGGTT (n.*10_*11insGGTT)
n.599_600insGGTT
c.267_268insGGTT (p.Ser90GlyfsTer4)
n.646_647insGGTT
21g.34880645G>ACA512318742RUNX1c.420C>T (p.Tyr140=)
c.339C>T (p.Tyr113=)
c.384C>T (p.Tyr128=)
c.381C>T (p.Tyr127=)
c.*10C>T (n.*10C>T)
n.599C>T
c.267C>T (p.Tyr89=)
n.646C>T
dbSNP gnomAD v4
21g.34880645G>CCA410202647RUNX1c.420C>G (p.Tyr140Ter)
c.339C>G (p.Tyr113Ter)
c.384C>G (p.Tyr128Ter)
c.381C>G (p.Tyr127Ter)
c.*10C>G (n.*10C>G)
n.599C>G
c.267C>G (p.Tyr89Ter)
n.646C>G
dbSNP
21g.34880645G>TCA410202648RUNX1c.420C>A (p.Tyr140Ter)
c.339C>A (p.Tyr113Ter)
c.384C>A (p.Tyr128Ter)
c.381C>A (p.Tyr127Ter)
c.*10C>A (n.*10C>A)
n.599C>A
c.267C>A (p.Tyr89Ter)
n.646C>A
21g.34880645_34880646delCA645607392RUNX1c.419_420del (p.Tyr140PhefsTer3)
c.338_339del (p.Tyr113PhefsTer3)
c.383_384del (p.Tyr128PhefsTer3)
c.380_381del (p.Tyr127PhefsTer3)
c.*9_*10del (n.*9_*10del)
n.598_599del
c.266_267del (p.Tyr89PhefsTer3)
n.645_646del
COSMIC COSMIC
21g.34880645_34880646insACA2580611938RUNX1c.419_420insT (p.Ser141LeufsTer3)
c.338_339insT (p.Ser114LeufsTer3)
c.383_384insT (p.Ser129LeufsTer3)
c.380_381insT (p.Ser128LeufsTer3)
c.*9_*10insT (n.*9_*10insT)
n.598_599insT
c.266_267insT (p.Ser90LeufsTer3)
n.645_646insT
21g.34880646T>ACA410202649RUNX1c.419A>T (p.Tyr140Phe)
c.338A>T (p.Tyr113Phe)
c.383A>T (p.Tyr128Phe)
c.380A>T (p.Tyr127Phe)
c.*9A>T (n.*9A>T)
n.598A>T
c.266A>T (p.Tyr89Phe)
n.645A>T
dbSNP
21g.34880646T>CCA410202650RUNX1c.419A>G (p.Tyr140Cys)
c.338A>G (p.Tyr113Cys)
c.383A>G (p.Tyr128Cys)
c.380A>G (p.Tyr127Cys)
c.*9A>G (n.*9A>G)
n.598A>G
c.266A>G (p.Tyr89Cys)
n.645A>G
dbSNP
21g.34880646T>GCA410202651RUNX1c.419A>C (p.Tyr140Ser)
c.338A>C (p.Tyr113Ser)
c.383A>C (p.Tyr128Ser)
c.380A>C (p.Tyr127Ser)
c.*9A>C (n.*9A>C)
n.598A>C
c.266A>C (p.Tyr89Ser)
n.645A>C
dbSNP
21g.34880646T=CA2387294354RUNX1c.419A= (p.Tyr140=)
c.338A= (p.Tyr113=)
c.383A= (p.Tyr128=)
c.380A= (p.Tyr127=)
c.*9A= (n.*9A=)
n.598A=
c.266A= (p.Tyr89=)
n.645A=
21g.34880646_34880668dupCA645607393RUNX1c.397_419dup (p.Tyr140Ter)
c.316_338dup (p.Tyr113Ter)
c.361_383dup (p.Tyr128Ter)
c.358_380dup (p.Tyr127Ter)
c.104_*9dup (n.104_*9dup)
n.576_598dup
c.244_266dup (p.Tyr89Ter)
n.623_645dup
COSMIC
21g.34880647A>CCA410202652RUNX1c.418T>G (p.Tyr140Asp)
c.337T>G (p.Tyr113Asp)
c.382T>G (p.Tyr128Asp)
c.379T>G (p.Tyr127Asp)
c.*8T>G (n.*8T>G)
n.597T>G
c.265T>G (p.Tyr89Asp)
n.644T>G
21g.34880647A>GCA410202653RUNX1c.418T>C (p.Tyr140His)
c.337T>C (p.Tyr113His)
c.382T>C (p.Tyr128His)
c.379T>C (p.Tyr127His)
c.*8T>C (n.*8T>C)
n.597T>C
c.265T>C (p.Tyr89His)
n.644T>C
ClinVar
21g.34880647A>TCA410202654RUNX1c.418T>A (p.Tyr140Asn)
c.337T>A (p.Tyr113Asn)
c.382T>A (p.Tyr128Asn)
c.379T>A (p.Tyr127Asn)
c.*8T>A (n.*8T>A)
n.597T>A
c.265T>A (p.Tyr89Asn)
n.644T>A
dbSNP
21g.34880647dupCA645607394RUNX1c.418dup (p.Tyr140LeufsTer4)
c.337dup (p.Tyr113LeufsTer4)
c.382dup (p.Tyr128LeufsTer4)
c.379dup (p.Tyr127LeufsTer4)
c.*8dup (n.*8dup)
n.597dup
c.265dup (p.Tyr89LeufsTer4)
n.644dup
COSMIC
21g.34880647_34880709dupCA891842373RUNX1c.356_418dup (p.Asn139_Tyr140insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.275_337dup (p.Asn112_Tyr113insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.320_382dup (p.Asn127_Tyr128insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.317_379dup (p.Asn126_Tyr127insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.63_*8dup (n.63_*8dup)
n.535_597dup
c.203_265dup (p.Asn88_Tyr89insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
n.582_644dup
21g.34880648G>ACA512318743RUNX1c.417C>T (p.Asn139=)
c.336C>T (p.Asn112=)
c.381C>T (p.Asn127=)
c.378C>T (p.Asn126=)
c.*7C>T (n.*7C>T)
n.596C>T
c.264C>T (p.Asn88=)
n.643C>T
dbSNP
21g.34880648G>CCA410202655RUNX1c.417C>G (p.Asn139Lys)
c.336C>G (p.Asn112Lys)
c.381C>G (p.Asn127Lys)
c.378C>G (p.Asn126Lys)
c.*7C>G (n.*7C>G)
n.596C>G
c.264C>G (p.Asn88Lys)
n.643C>G
dbSNP COSMIC COSMIC
21g.34880648G>TCA410202656RUNX1c.417C>A (p.Asn139Lys)
c.336C>A (p.Asn112Lys)
c.381C>A (p.Asn127Lys)
c.378C>A (p.Asn126Lys)
c.*7C>A (n.*7C>A)
n.596C>A
c.264C>A (p.Asn88Lys)
n.643C>A
21g.34880648_34880660delCA2695230130RUNX1c.405_417del (p.Asn136ThrfsTer5)
c.324_336del (p.Asn109ThrfsTer5)
c.369_381del (p.Asn124ThrfsTer5)
c.366_378del (p.Asn123ThrfsTer5)
c.112_*7del (n.[c.112_*7del;Gln38TyrfsTer?])
n.584_596del
c.252_264del (p.Asn85ThrfsTer5)
n.631_643del
21g.34880649T>ACA410202657RUNX1c.416A>T (p.Asn139Ile)
c.335A>T (p.Asn112Ile)
c.380A>T (p.Asn127Ile)
c.377A>T (p.Asn126Ile)
c.*6A>T (n.*6A>T)
n.595A>T
c.263A>T (p.Asn88Ile)
n.642A>T
dbSNP
21g.34880649T>CCA410202658RUNX1c.416A>G (p.Asn139Ser)
c.335A>G (p.Asn112Ser)
c.380A>G (p.Asn127Ser)
c.377A>G (p.Asn126Ser)
c.*6A>G (n.*6A>G)
n.595A>G
c.263A>G (p.Asn88Ser)
n.642A>G
COSMIC COSMIC
21g.34880649T>GCA410202659RUNX1c.416A>C (p.Asn139Thr)
c.335A>C (p.Asn112Thr)
c.380A>C (p.Asn127Thr)
c.377A>C (p.Asn126Thr)
c.*6A>C (n.*6A>C)
n.595A>C
c.263A>C (p.Asn88Thr)
n.642A>C
COSMIC COSMIC
21g.34880652dupCA645607395RUNX1c.416dup (p.Asn139LysfsTer5)
c.335dup (p.Asn112LysfsTer5)
c.380dup (p.Asn127LysfsTer5)
c.377dup (p.Asn126LysfsTer5)
c.*6dup (n.*6dup)
n.595dup
c.263dup (p.Asn88LysfsTer5)
n.642dup
COSMIC
21g.34880652delCA2695202506RUNX1c.416del (p.Asn139ThrfsTer6)
c.335del (p.Asn112ThrfsTer6)
c.380del (p.Asn127ThrfsTer6)
c.377del (p.Asn126ThrfsTer6)
c.*6del (n.*6del)
n.595del
c.263del (p.Asn88ThrfsTer6)
n.642del
21g.34880650T>ACA410202661RUNX1c.415A>T (p.Asn139Tyr)
c.334A>T (p.Asn112Tyr)
c.379A>T (p.Asn127Tyr)
c.376A>T (p.Asn126Tyr)
c.*5A>T (n.*5A>T)
n.594A>T
c.262A>T (p.Asn88Tyr)
n.641A>T
dbSNP
21g.34880650T>CCA410202662RUNX1c.415A>G (p.Asn139Asp)
c.334A>G (p.Asn112Asp)
c.379A>G (p.Asn127Asp)
c.376A>G (p.Asn126Asp)
c.*5A>G (n.*5A>G)
n.594A>G
c.262A>G (p.Asn88Asp)
n.641A>G
ClinVar dbSNP
21g.34880650T>GCA410202660RUNX1c.415A>C (p.Asn139His)
c.334A>C (p.Asn112His)
c.379A>C (p.Asn127His)
c.376A>C (p.Asn126His)
c.*5A>C (n.*5A>C)
n.594A>C
c.262A>C (p.Asn88His)
n.641A>C
dbSNP
21g.34880651T>ACA320638000RUNX1c.414A>T (p.Glu138Asp)
c.333A>T (p.Glu111Asp)
c.378A>T (p.Glu126Asp)
c.375A>T (p.Glu125Asp)
c.*4A>T (n.*4A>T)
n.593A>T
c.261A>T (p.Glu87Asp)
n.640A>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34880651T>CCA512318744RUNX1c.414A>G (p.Glu138=)
c.333A>G (p.Glu111=)
c.378A>G (p.Glu126=)
c.375A>G (p.Glu125=)
c.*4A>G (n.*4A>G)
n.593A>G
c.261A>G (p.Glu87=)
n.640A>G
dbSNP
21g.34880651T>GCA10014520RUNX1c.414A>C (p.Glu138Asp)
c.333A>C (p.Glu111Asp)
c.378A>C (p.Glu126Asp)
c.375A>C (p.Glu125Asp)
c.*4A>C (n.*4A>C)
n.593A>C
c.261A>C (p.Glu87Asp)
n.640A>C
ClinVar dbSNP ExAC gnomAD v4
21g.34880651T=CA2387294355RUNX1c.414A= (p.Glu138=)
c.333A= (p.Glu111=)
c.378A= (p.Glu126=)
c.375A= (p.Glu125=)
c.*4A= (n.*4A=)
n.593A=
c.261A= (p.Glu87=)
n.640A=
21g.34880652T>ACA410202663RUNX1c.413A>T (p.Glu138Val)
c.332A>T (p.Glu111Val)
c.377A>T (p.Glu126Val)
c.374A>T (p.Glu125Val)
c.*3A>T (n.*3A>T)
n.592A>T
c.260A>T (p.Glu87Val)
n.639A>T
dbSNP
21g.34880652T>CCA410202664RUNX1c.413A>G (p.Glu138Gly)
c.332A>G (p.Glu111Gly)
c.377A>G (p.Glu126Gly)
c.374A>G (p.Glu125Gly)
c.*3A>G (n.*3A>G)
n.592A>G
c.260A>G (p.Glu87Gly)
n.639A>G
dbSNP COSMIC COSMIC
21g.34880652T>GCA410202665RUNX1c.413A>C (p.Glu138Ala)
c.332A>C (p.Glu111Ala)
c.377A>C (p.Glu126Ala)
c.374A>C (p.Glu125Ala)
c.*3A>C (n.*3A>C)
n.592A>C
c.260A>C (p.Glu87Ala)
n.639A>C
21g.34880653C>ACA410202668RUNX1c.412G>T (p.Glu138Ter)
c.331G>T (p.Glu111Ter)
c.376G>T (p.Glu126Ter)
c.373G>T (p.Glu125Ter)
c.*2G>T (n.*2G>T)
n.591G>T
c.259G>T (p.Glu87Ter)
n.638G>T
21g.34880653C=CA2387294356RUNX1c.412G= (p.Glu138=)
c.331G= (p.Glu111=)
c.376G= (p.Glu126=)
c.373G= (p.Glu125=)
c.*2G= (n.*2G=)
n.591G=
c.259G= (p.Glu87=)
n.638G=
21g.34880653C>GCA410202666RUNX1c.412G>C (p.Glu138Gln)
c.331G>C (p.Glu111Gln)
c.376G>C (p.Glu126Gln)
c.373G>C (p.Glu125Gln)
c.*2G>C (n.*2G>C)
n.591G>C
c.259G>C (p.Glu87Gln)
n.638G>C
dbSNP
21g.34880653C>TCA410202667RUNX1c.412G>A (p.Glu138Lys)
c.331G>A (p.Glu111Lys)
c.376G>A (p.Glu126Lys)
c.373G>A (p.Glu125Lys)
c.*2G>A (n.*2G>A)
n.591G>A
c.259G>A (p.Glu87Lys)
n.638G>A
ClinVar dbSNP COSMIC COSMIC
21g.34880654A>CCA410202669RUNX1c.411T>G (p.Asp137Glu)
c.330T>G (p.Asp110Glu)
c.375T>G (p.Asp125Glu)
c.372T>G (p.Asp124Glu)
c.*1T>G (n.*1T>G)
n.590T>G
c.258T>G (p.Asp86Glu)
n.637T>G
dbSNP
21g.34880654A>GCA512318745RUNX1c.411T>C (p.Asp137=)
c.330T>C (p.Asp110=)
c.375T>C (p.Asp125=)
c.372T>C (p.Asp124=)
c.*1T>C (n.*1T>C)
n.590T>C
c.258T>C (p.Asp86=)
n.637T>C
dbSNP
21g.34880654A>TCA410202670RUNX1c.411T>A (p.Asp137Glu)
c.330T>A (p.Asp110Glu)
c.375T>A (p.Asp125Glu)
c.372T>A (p.Asp124Glu)
c.*1T>A (n.*1T>A)
n.590T>A
c.258T>A (p.Asp86Glu)
n.637T>A
dbSNP
21g.34880654dupCA2739267616RUNX1c.411dup (p.Glu138Ter)
c.330dup (p.Glu111Ter)
c.375dup (p.Glu126Ter)
c.372dup (p.Glu125Ter)
c.*1dup (n.*1dup)
n.590dup
c.258dup (p.Glu87Ter)
n.637dup
ClinVar
21g.34880655T>ACA410202671RUNX1c.410A>T (p.Asp137Val)
c.329A>T (p.Asp110Val)
c.374A>T (p.Asp125Val)
c.371A>T (p.Asp124Val)
c.117A>T (p.Ter39Cys)
n.589A>T
c.257A>T (p.Asp86Val)
n.636A>T
dbSNP gnomAD v2 gnomAD v4
21g.34880655T>CCA410202672RUNX1c.410A>G (p.Asp137Gly)
c.329A>G (p.Asp110Gly)
c.374A>G (p.Asp125Gly)
c.371A>G (p.Asp124Gly)
c.117A>G (p.Ter39Trp)
n.589A>G
c.257A>G (p.Asp86Gly)
n.636A>G
21g.34880655T>GCA410202673RUNX1c.410A>C (p.Asp137Ala)
c.329A>C (p.Asp110Ala)
c.374A>C (p.Asp125Ala)
c.371A>C (p.Asp124Ala)
c.117A>C (p.Ter39Cys)
n.589A>C
c.257A>C (p.Asp86Ala)
n.636A>C
21g.34880655T=CA2387294357RUNX1c.410A= (p.Asp137=)
c.329A= (p.Asp110=)
c.374A= (p.Asp125=)
c.371A= (p.Asp124=)
c.117A= (p.Ter39=)
n.589A=
c.257A= (p.Asp86=)
n.636A=
21g.34880656C>ACA410202674RUNX1c.409G>T (p.Asp137Tyr)
c.328G>T (p.Asp110Tyr)
c.373G>T (p.Asp125Tyr)
c.370G>T (p.Asp124Tyr)
c.116G>T (p.Ter39Leu)
n.588G>T
c.256G>T (p.Asp86Tyr)
n.635G>T
21g.34880656C=CA2387294358RUNX1c.409G= (p.Asp137=)
c.328G= (p.Asp110=)
c.373G= (p.Asp125=)
c.370G= (p.Asp124=)
c.116G= (p.Ter39=)
n.588G=
c.256G= (p.Asp86=)
n.635G=
21g.34880656C>GCA410202675RUNX1c.409G>C (p.Asp137His)
c.328G>C (p.Asp110His)
c.373G>C (p.Asp125His)
c.370G>C (p.Asp124His)
c.116G>C (p.Ter39Ser)
n.588G>C
c.256G>C (p.Asp86His)
n.635G>C
dbSNP
21g.34880656C>TCA10014521RUNX1c.409G>A (p.Asp137Asn)
c.328G>A (p.Asp110Asn)
c.373G>A (p.Asp125Asn)
c.370G>A (p.Asp124Asn)
c.116G>A (p.Ter39=)
n.588G>A
c.256G>A (p.Asp86Asn)
n.635G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
21g.34880657A=CA2387294359RUNX1c.408T= (p.Asn136=)
c.327T= (p.Asn109=)
c.372T= (p.Asn124=)
c.369T= (p.Asn123=)
c.115T= (p.Ter39=)
n.587T=
c.255T= (p.Asn85=)
n.634T=
21g.34880657A>CCA410202676RUNX1c.408T>G (p.Asn136Lys)
c.327T>G (p.Asn109Lys)
c.372T>G (p.Asn124Lys)
c.369T>G (p.Asn123Lys)
c.115T>G (p.Ter39Gly)
n.587T>G
c.255T>G (p.Asn85Lys)
n.634T>G
dbSNP
21g.34880657A>GCA512318746RUNX1c.408T>C (p.Asn136=)
c.327T>C (p.Asn109=)
c.372T>C (p.Asn124=)
c.369T>C (p.Asn123=)
c.115T>C (p.Ter39Arg)
n.587T>C
c.255T>C (p.Asn85=)
n.634T>C
dbSNP
21g.34880657A>TCA410202677RUNX1c.408T>A (p.Asn136Lys)
c.327T>A (p.Asn109Lys)
c.372T>A (p.Asn124Lys)
c.369T>A (p.Asn123Lys)
c.115T>A (p.Ter39Arg)
n.587T>A
c.255T>A (p.Asn85Lys)
n.634T>A
ClinVar dbSNP
21g.34880658T>ACA410202678RUNX1c.407A>T (p.Asn136Ile)
c.326A>T (p.Asn109Ile)
c.371A>T (p.Asn124Ile)
c.368A>T (p.Asn123Ile)
c.114A>T (p.Gln38His)
n.586A>T
c.254A>T (p.Asn85Ile)
n.633A>T
ClinVar dbSNP
21g.34880658T>CCA410202679RUNX1c.407A>G (p.Asn136Ser)
c.326A>G (p.Asn109Ser)
c.371A>G (p.Asn124Ser)
c.368A>G (p.Asn123Ser)
c.114A>G (p.Gln38=)
n.586A>G
c.254A>G (p.Asn85Ser)
n.633A>G
21g.34880658T>GCA410202680RUNX1c.407A>C (p.Asn136Thr)
c.326A>C (p.Asn109Thr)
c.371A>C (p.Asn124Thr)
c.368A>C (p.Asn123Thr)
c.114A>C (p.Gln38His)
n.586A>C
c.254A>C (p.Asn85Thr)
n.633A>C
21g.34880658_34880659insGGTCACTCA645607396RUNX1c.407_408insGTGACCA (p.Asn136LysfsTer2)
c.326_327insGTGACCA (p.Asn109LysfsTer2)
c.371_372insGTGACCA (p.Asn124LysfsTer2)
c.368_369insGTGACCA (p.Asn123LysfsTer2)
c.114_115insGTGACCA (p.Ter39ValextTer11)
n.586_587insGTGACCA
c.254_255insGTGACCA (p.Asn85LysfsTer2)
n.633_634insGTGACCA
COSMIC
21g.34880659T>ACA410202681RUNX1c.406A>T (p.Asn136Tyr)
c.325A>T (p.Asn109Tyr)
c.370A>T (p.Asn124Tyr)
c.367A>T (p.Asn123Tyr)
c.113A>T (p.Gln38Leu)
n.585A>T
c.253A>T (p.Asn85Tyr)
n.632A>T
21g.34880659T>CCA410202682RUNX1c.406A>G (p.Asn136Asp)
c.325A>G (p.Asn109Asp)
c.370A>G (p.Asn124Asp)
c.367A>G (p.Asn123Asp)
c.113A>G (p.Gln38Arg)
n.585A>G
c.253A>G (p.Asn85Asp)
n.632A>G
21g.34880659T>GCA410202683RUNX1c.406A>C (p.Asn136His)
c.325A>C (p.Asn109His)
c.370A>C (p.Asn124His)
c.367A>C (p.Asn123His)
c.113A>C (p.Gln38Pro)
n.585A>C
c.253A>C (p.Asn85His)
n.632A>C
21g.34880660G>ACA512318749RUNX1c.405C>T (p.Gly135=)
c.324C>T (p.Gly108=)
c.369C>T (p.Gly123=)
c.366C>T (p.Gly122=)
c.112C>T (p.Gln38Ter)
n.584C>T
c.252C>T (p.Gly84=)
n.631C>T
dbSNP
21g.34880660G>CCA512318747RUNX1c.405C>G (p.Gly135=)
c.324C>G (p.Gly108=)
c.369C>G (p.Gly123=)
c.366C>G (p.Gly122=)
c.112C>G (p.Gln38Glu)
n.584C>G
c.252C>G (p.Gly84=)
n.631C>G
21g.34880660G>TCA512318748RUNX1c.405C>A (p.Gly135=)
c.324C>A (p.Gly108=)
c.369C>A (p.Gly123=)
c.366C>A (p.Gly122=)
c.112C>A (p.Gln38Lys)
n.584C>A
c.252C>A (p.Gly84=)
n.631C>A
21g.34880661C>ACA410202684RUNX1c.404G>T (p.Gly135Val)
c.323G>T (p.Gly108Val)
c.368G>T (p.Gly123Val)
c.365G>T (p.Gly122Val)
c.111G>T (p.Trp37Cys)
n.583G>T
c.251G>T (p.Gly84Val)
n.630G>T
dbSNP
21g.34880661C>GCA410202685RUNX1c.404G>C (p.Gly135Ala)
c.323G>C (p.Gly108Ala)
c.368G>C (p.Gly123Ala)
c.365G>C (p.Gly122Ala)
c.111G>C (p.Trp37Cys)
n.583G>C
c.251G>C (p.Gly84Ala)
n.630G>C
dbSNP
21g.34880661C>TCA410202686RUNX1c.404G>A (p.Gly135Asp)
c.323G>A (p.Gly108Asp)
c.368G>A (p.Gly123Asp)
c.365G>A (p.Gly122Asp)
c.111G>A (p.Trp37Ter)
n.583G>A
c.251G>A (p.Gly84Asp)
n.630G>A
dbSNP COSMIC COSMIC
21g.34880661_34880662insACA645607397RUNX1c.403_404insT (p.Gly135ValfsTer3)
c.322_323insT (p.Gly108ValfsTer3)
c.367_368insT (p.Gly123ValfsTer3)
c.364_365insT (p.Gly122ValfsTer3)
c.110_111insT (p.Trp37CysfsTer11)
n.582_583insT
c.250_251insT (p.Gly84ValfsTer3)
n.629_630insT
COSMIC COSMIC
21g.34880662C>ACA410202689RUNX1c.403G>T (p.Gly135Cys)
c.322G>T (p.Gly108Cys)
c.367G>T (p.Gly123Cys)
c.364G>T (p.Gly122Cys)
c.110G>T (p.Trp37Leu)
n.582G>T
c.250G>T (p.Gly84Cys)
n.629G>T
21g.34880662C=CA2387294360RUNX1c.403G= (p.Gly135=)
c.322G= (p.Gly108=)
c.367G= (p.Gly123=)
c.364G= (p.Gly122=)
c.110G= (p.Trp37=)
n.582G=
c.250G= (p.Gly84=)
n.629G=
21g.34880662C>GCA410202688RUNX1c.403G>C (p.Gly135Arg)
c.322G>C (p.Gly108Arg)
c.367G>C (p.Gly123Arg)
c.364G>C (p.Gly122Arg)
c.110G>C (p.Trp37Ser)
n.582G>C
c.250G>C (p.Gly84Arg)
n.629G>C
dbSNP gnomAD v2 gnomAD v4
21g.34880662C>TCA410202687RUNX1c.403G>A (p.Gly135Ser)
c.322G>A (p.Gly108Ser)
c.367G>A (p.Gly123Ser)
c.364G>A (p.Gly122Ser)
c.110G>A (p.Trp37Ter)
n.582G>A
c.250G>A (p.Gly84Ser)
n.629G>A
ClinVar dbSNP
21g.34880663A=CA2387294361RUNX1c.402T= (p.Ala134=)
c.321T= (p.Ala107=)
c.366T= (p.Ala122=)
c.363T= (p.Ala121=)
c.109T= (p.Trp37=)
n.581T=
c.249T= (p.Ala83=)
n.628T=
21g.34880663A>CCA512318750RUNX1c.402T>G (p.Ala134=)
c.321T>G (p.Ala107=)
c.366T>G (p.Ala122=)
c.363T>G (p.Ala121=)
c.109T>G (p.Trp37Gly)
n.581T>G
c.249T>G (p.Ala83=)
n.628T>G
21g.34880663A>GCA512318752RUNX1c.402T>C (p.Ala134=)
c.321T>C (p.Ala107=)
c.366T>C (p.Ala122=)
c.363T>C (p.Ala121=)
c.109T>C (p.Trp37Arg)
n.581T>C
c.249T>C (p.Ala83=)
n.628T>C
ClinVar dbSNP
21g.34880663A>TCA512318751RUNX1c.402T>A (p.Ala134=)
c.321T>A (p.Ala107=)
c.366T>A (p.Ala122=)
c.363T>A (p.Ala121=)
c.109T>A (p.Trp37Arg)
n.581T>A
c.249T>A (p.Ala83=)
n.628T>A
dbSNP
21g.34880664G>ACA410202690RUNX1c.401C>T (p.Ala134Val)
c.320C>T (p.Ala107Val)
c.365C>T (p.Ala122Val)
c.362C>T (p.Ala121Val)
c.108C>T (p.Gly36=)
n.580C>T
c.248C>T (p.Ala83Val)
n.627C>T
ClinVar dbSNP
21g.34880664G>CCA410202692RUNX1c.401C>G (p.Ala134Gly)
c.320C>G (p.Ala107Gly)
c.365C>G (p.Ala122Gly)
c.362C>G (p.Ala121Gly)
c.108C>G (p.Gly36=)
n.580C>G
c.248C>G (p.Ala83Gly)
n.627C>G
dbSNP
21g.34880664G>TCA410202691RUNX1c.401C>A (p.Ala134Asp)
c.320C>A (p.Ala107Asp)
c.365C>A (p.Ala122Asp)
c.362C>A (p.Ala121Asp)
c.108C>A (p.Gly36=)
n.580C>A
c.248C>A (p.Ala83Asp)
n.627C>A
COSMIC
21g.34880665C>ACA410202693RUNX1c.400G>T (p.Ala134Ser)
c.319G>T (p.Ala107Ser)
c.364G>T (p.Ala122Ser)
c.361G>T (p.Ala121Ser)
c.107G>T (p.Gly36Val)
n.579G>T
c.247G>T (p.Ala83Ser)
n.626G>T
dbSNP
21g.34880665C=CA2387294362RUNX1c.400G= (p.Ala134=)
c.319G= (p.Ala107=)
c.364G= (p.Ala122=)
c.361G= (p.Ala121=)
c.107G= (p.Gly36=)
n.579G=
c.247G= (p.Ala83=)
n.626G=
21g.34880665C>GCA248623RUNX1c.400G>C (p.Ala134Pro)
c.319G>C (p.Ala107Pro)
c.364G>C (p.Ala122Pro)
c.361G>C (p.Ala121Pro)
c.107G>C (p.Gly36Ala)
n.579G>C
c.247G>C (p.Ala83Pro)
n.626G>C
ClinVar dbSNP COSMIC COSMIC
21g.34880665C>TCA410202694RUNX1c.400G>A (p.Ala134Thr)
c.319G>A (p.Ala107Thr)
c.364G>A (p.Ala122Thr)
c.361G>A (p.Ala121Thr)
c.107G>A (p.Gly36Asp)
n.579G>A
c.247G>A (p.Ala83Thr)
n.626G>A
dbSNP
21g.34880666delCA512318753RUNX1c.400del (p.Ala134LeufsTer11)
c.319del (p.Ala107LeufsTer11)
c.364del (p.Ala122LeufsTer11)
c.361del (p.Ala121LeufsTer11)
c.107del (p.Gly36AlafsTer?)
n.579del
c.247del (p.Ala83LeufsTer11)
n.626del
COSMIC
21g.34880666C>ACA410202695RUNX1c.399G>T (p.Met133Ile)
c.318G>T (p.Met106Ile)
c.363G>T (p.Met121Ile)
c.360G>T (p.Met120Ile)
c.106G>T (p.Gly36Cys)
n.578G>T
c.246G>T (p.Met82Ile)
n.625G>T
21g.34880666C=CA2387294363RUNX1c.399G= (p.Met133=)
c.318G= (p.Met106=)
c.363G= (p.Met121=)
c.360G= (p.Met120=)
c.106G= (p.Gly36=)
n.578G=
c.246G= (p.Met82=)
n.625G=
21g.34880666C>GCA410202696RUNX1c.399G>C (p.Met133Ile)
c.318G>C (p.Met106Ile)
c.363G>C (p.Met121Ile)
c.360G>C (p.Met120Ile)
c.106G>C (p.Gly36Arg)
n.578G>C
c.246G>C (p.Met82Ile)
n.625G>C
21g.34880666C>TCA410202697RUNX1c.399G>A (p.Met133Ile)
c.318G>A (p.Met106Ile)
c.363G>A (p.Met121Ile)
c.360G>A (p.Met120Ile)
c.106G>A (p.Gly36Ser)
n.578G>A
c.246G>A (p.Met82Ile)
n.625G>A
dbSNP gnomAD v3 gnomAD v4
21g.34880666_34880667dupCA645607398RUNX1c.398_399dup (p.Ala134TrpfsTer12)
c.317_318dup (p.Ala107TrpfsTer12)
c.362_363dup (p.Ala122TrpfsTer12)
c.359_360dup (p.Ala121TrpfsTer12)
c.105_106dup (p.Gly36ValfsTer?)
n.577_578dup
c.245_246dup (p.Ala83TrpfsTer12)
n.624_625dup
COSMIC COSMIC
21g.34880667delCA891842374RUNX1c.398del (p.Met133ArgfsTer12)
c.317del (p.Met106ArgfsTer12)
c.362del (p.Met121ArgfsTer12)
c.359del (p.Met120ArgfsTer12)
c.105del (p.Asp35GlufsTer?)
n.577del
c.245del (p.Met82ArgfsTer12)
n.624del
21g.34880667A>CCA410202698RUNX1c.398T>G (p.Met133Arg)
c.317T>G (p.Met106Arg)
c.362T>G (p.Met121Arg)
c.359T>G (p.Met120Arg)
c.105T>G (p.Asp35Glu)
n.577T>G
c.245T>G (p.Met82Arg)
n.624T>G
dbSNP
21g.34880667A>GCA410202699RUNX1c.398T>C (p.Met133Thr)
c.317T>C (p.Met106Thr)
c.362T>C (p.Met121Thr)
c.359T>C (p.Met120Thr)
c.105T>C (p.Asp35=)
n.577T>C
c.245T>C (p.Met82Thr)
n.624T>C
21g.34880667A>TCA410202700RUNX1c.398T>A (p.Met133Lys)
c.317T>A (p.Met106Lys)
c.362T>A (p.Met121Lys)
c.359T>A (p.Met120Lys)
c.105T>A (p.Asp35Glu)
n.577T>A
c.245T>A (p.Met82Lys)
n.624T>A
dbSNP
21g.34880668T>ACA410202701RUNX1c.397A>T (p.Met133Leu)
c.316A>T (p.Met106Leu)
c.361A>T (p.Met121Leu)
c.358A>T (p.Met120Leu)
c.104A>T (p.Asp35Val)
n.576A>T
c.244A>T (p.Met82Leu)
n.623A>T
dbSNP
21g.34880668T>CCA410202702RUNX1c.397A>G (p.Met133Val)
c.316A>G (p.Met106Val)
c.361A>G (p.Met121Val)
c.358A>G (p.Met120Val)
c.104A>G (p.Asp35Gly)
n.576A>G
c.244A>G (p.Met82Val)
n.623A>G
ClinVar gnomAD v4
21g.34880668T>GCA410202703RUNX1c.397A>C (p.Met133Leu)
c.316A>C (p.Met106Leu)
c.361A>C (p.Met121Leu)
c.358A>C (p.Met120Leu)
c.104A>C (p.Asp35Ala)
n.576A>C
c.244A>C (p.Met82Leu)
n.623A>C
21g.34880669C>ACA512318754RUNX1c.396G>T (p.Val132=)
c.315G>T (p.Val105=)
c.360G>T (p.Val120=)
c.357G>T (p.Val119=)
c.103G>T (p.Asp35Tyr)
n.575G>T
c.243G>T (p.Val81=)
n.622G>T
dbSNP
21g.34880669C>GCA512318756RUNX1c.396G>C (p.Val132=)
c.315G>C (p.Val105=)
c.360G>C (p.Val120=)
c.357G>C (p.Val119=)
c.103G>C (p.Asp35His)
n.575G>C
c.243G>C (p.Val81=)
n.622G>C
dbSNP
21g.34880669C>TCA512318755RUNX1c.396G>A (p.Val132=)
c.315G>A (p.Val105=)
c.360G>A (p.Val120=)
c.357G>A (p.Val119=)
c.103G>A (p.Asp35Asn)
n.575G>A
c.243G>A (p.Val81=)
n.622G>A
dbSNP
21g.34880671_34880672delCA645607399RUNX1c.395_396del (p.Val132AspfsTer5)
c.314_315del (p.Val105AspfsTer5)
c.359_360del (p.Val120AspfsTer5)
c.356_357del (p.Val119AspfsTer5)
c.102_103del (p.Cys34Ter)
n.574_575del
c.242_243del (p.Val81AspfsTer5)
n.621_622del
COSMIC
21g.34880670delCA2573049020RUNX1c.395del (p.Val132GlyfsTer13)
c.314del (p.Val105GlyfsTer13)
c.359del (p.Val120GlyfsTer13)
c.356del (p.Val119GlyfsTer13)
c.102del (p.Cys34TrpfsTer?)
n.574del
c.242del (p.Val81GlyfsTer13)
n.621del
21g.34880670A>CCA410202704RUNX1c.395T>G (p.Val132Gly)
c.314T>G (p.Val105Gly)
c.359T>G (p.Val120Gly)
c.356T>G (p.Val119Gly)
c.102T>G (p.Cys34Trp)
n.574T>G
c.242T>G (p.Val81Gly)
n.621T>G
dbSNP
21g.34880670A>GCA410202706RUNX1c.395T>C (p.Val132Ala)
c.314T>C (p.Val105Ala)
c.359T>C (p.Val120Ala)
c.356T>C (p.Val119Ala)
c.102T>C (p.Cys34=)
n.574T>C
c.242T>C (p.Val81Ala)
n.621T>C
21g.34880670A>TCA410202705RUNX1c.395T>A (p.Val132Glu)
c.314T>A (p.Val105Glu)
c.359T>A (p.Val120Glu)
c.356T>A (p.Val119Glu)
c.102T>A (p.Cys34Ter)
n.574T>A
c.242T>A (p.Val81Glu)
n.621T>A
dbSNP
21g.34880670dupCA645607400RUNX1c.395dup (p.Met133AspfsTer5)
c.314dup (p.Met106AspfsTer5)
c.359dup (p.Met121AspfsTer5)
c.356dup (p.Met120AspfsTer5)
c.102dup (p.Asp35Ter)
n.574dup
c.242dup (p.Met82AspfsTer5)
n.621dup
COSMIC
21g.34880671_34880681delCA2580098648RUNX1c.385_395del (p.Leu129AspfsTer5)
c.304_314del (p.Leu102AspfsTer5)
c.349_359del (p.Leu117AspfsTer5)
c.346_356del (p.Leu116AspfsTer5)
c.92_102del (p.Ser31Ter)
n.564_574del
c.232_242del (p.Leu78AspfsTer5)
n.611_621del
ClinVar
21g.34880670_34880671insTCA512318757RUNX1c.394_395insA (p.Val132AspfsTer6)
c.313_314insA (p.Val105AspfsTer6)
c.358_359insA (p.Val120AspfsTer6)
c.355_356insA (p.Val119AspfsTer6)
c.101_102insA (p.Cys34Ter)
n.573_574insA
c.241_242insA (p.Val81AspfsTer6)
n.620_621insA
21g.34880671C>ACA410202707RUNX1c.394G>T (p.Val132Leu)
c.313G>T (p.Val105Leu)
c.358G>T (p.Val120Leu)
c.355G>T (p.Val119Leu)
c.101G>T (p.Cys34Phe)
n.573G>T
c.241G>T (p.Val81Leu)
n.620G>T
dbSNP
21g.34880671C>GCA410202708RUNX1c.394G>C (p.Val132Leu)
c.313G>C (p.Val105Leu)
c.358G>C (p.Val120Leu)
c.355G>C (p.Val119Leu)
c.101G>C (p.Cys34Ser)
n.573G>C
c.241G>C (p.Val81Leu)
n.620G>C
dbSNP
21g.34880671C>TCA410202709RUNX1c.394G>A (p.Val132Met)
c.313G>A (p.Val105Met)
c.358G>A (p.Val120Met)
c.355G>A (p.Val119Met)
c.101G>A (p.Cys34Tyr)
n.573G>A
c.241G>A (p.Val81Met)
n.620G>A
dbSNP
21g.34880672A=CA2387294364RUNX1c.393T= (p.Thr131=)
c.312T= (p.Thr104=)
c.357T= (p.Thr119=)
c.354T= (p.Thr118=)
c.100T= (p.Cys34=)
n.572T=
c.240T= (p.Thr80=)
n.619T=
21g.34880672A>CCA512318759RUNX1c.393T>G (p.Thr131=)
c.312T>G (p.Thr104=)
c.357T>G (p.Thr119=)
c.354T>G (p.Thr118=)
c.100T>G (p.Cys34Gly)
n.572T>G
c.240T>G (p.Thr80=)
n.619T>G
21g.34880672A>GCA10014522RUNX1c.393T>C (p.Thr131=)
c.312T>C (p.Thr104=)
c.357T>C (p.Thr119=)
c.354T>C (p.Thr118=)
c.100T>C (p.Cys34Arg)
n.572T>C
c.240T>C (p.Thr80=)
n.619T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.34880672A>TCA512318758RUNX1c.393T>A (p.Thr131=)
c.312T>A (p.Thr104=)
c.357T>A (p.Thr119=)
c.354T>A (p.Thr118=)
c.100T>A (p.Cys34Ser)
n.572T>A
c.240T>A (p.Thr80=)
n.619T>A
dbSNP gnomAD v4 COSMIC COSMIC
21g.34880673G>ACA410202710RUNX1c.392C>T (p.Thr131Ile)
c.311C>T (p.Thr104Ile)
c.356C>T (p.Thr119Ile)
c.353C>T (p.Thr118Ile)
c.99C>T (p.His33=)
n.571C>T
c.239C>T (p.Thr80Ile)
n.618C>T
dbSNP
21g.34880673G>CCA410202711RUNX1c.392C>G (p.Thr131Ser)
c.311C>G (p.Thr104Ser)
c.356C>G (p.Thr119Ser)
c.353C>G (p.Thr118Ser)
c.99C>G (p.His33Gln)
n.571C>G
c.239C>G (p.Thr80Ser)
n.618C>G
dbSNP
21g.34880673G>TCA410202712RUNX1c.392C>A (p.Thr131Asn)
c.311C>A (p.Thr104Asn)
c.356C>A (p.Thr119Asn)
c.353C>A (p.Thr118Asn)
c.99C>A (p.His33Gln)
n.571C>A
c.239C>A (p.Thr80Asn)
n.618C>A
dbSNP
21g.34880673_34880674insCGATCA2580098649RUNX1c.391_392insATCG (p.Thr131AsnfsTer8)
c.310_311insATCG (p.Thr104AsnfsTer8)
c.355_356insATCG (p.Thr119AsnfsTer8)
c.352_353insATCG (p.Thr118AsnfsTer8)
c.98_99insATCG (p.His33GlnfsTer4)
n.570_571insATCG
c.238_239insATCG (p.Thr80AsnfsTer8)
n.617_618insATCG
ClinVar
21g.34880674T>ACA410202713RUNX1c.391A>T (p.Thr131Ser)
c.310A>T (p.Thr104Ser)
c.355A>T (p.Thr119Ser)
c.352A>T (p.Thr118Ser)
c.98A>T (p.His33Leu)
n.570A>T
c.238A>T (p.Thr80Ser)
n.617A>T
dbSNP gnomAD v3 gnomAD v4
21g.34880674T>CCA410202714RUNX1c.391A>G (p.Thr131Ala)
c.310A>G (p.Thr104Ala)
c.355A>G (p.Thr119Ala)
c.352A>G (p.Thr118Ala)
c.98A>G (p.His33Arg)
n.570A>G
c.238A>G (p.Thr80Ala)
n.617A>G
ClinVar dbSNP gnomAD v4
21g.34880674T>GCA410202715RUNX1c.391A>C (p.Thr131Pro)
c.310A>C (p.Thr104Pro)
c.355A>C (p.Thr119Pro)
c.352A>C (p.Thr118Pro)
c.98A>C (p.His33Pro)
n.570A>C
c.238A>C (p.Thr80Pro)
n.617A>C
21g.34880674T=CA2387294365RUNX1c.391A= (p.Thr131=)
c.310A= (p.Thr104=)
c.355A= (p.Thr119=)
c.352A= (p.Thr118=)
c.98A= (p.His33=)
n.570A=
c.238A= (p.Thr80=)
n.617A=
21g.34880675G>ACA512318762RUNX1c.390C>T (p.Val130=)
c.309C>T (p.Val103=)
c.354C>T (p.Val118=)
c.351C>T (p.Val117=)
c.97C>T (p.His33Tyr)
n.569C>T
c.237C>T (p.Val79=)
n.616C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34880675G>CCA512318761RUNX1c.390C>G (p.Val130=)
c.309C>G (p.Val103=)
c.354C>G (p.Val118=)
c.351C>G (p.Val117=)
c.97C>G (p.His33Asp)
n.569C>G
c.237C>G (p.Val79=)
n.616C>G
dbSNP
21g.34880675G=CA2387294366RUNX1c.390C= (p.Val130=)
c.309C= (p.Val103=)
c.354C= (p.Val118=)
c.351C= (p.Val117=)
c.97C= (p.His33=)
n.569C=
c.237C= (p.Val79=)
n.616C=
21g.34880675G>TCA512318760RUNX1c.390C>A (p.Val130=)
c.309C>A (p.Val103=)
c.354C>A (p.Val118=)
c.351C>A (p.Val117=)
c.97C>A (p.His33Asn)
n.569C>A
c.237C>A (p.Val79=)
n.616C>A
dbSNP
21g.34880676A>CCA410202717RUNX1c.389T>G (p.Val130Gly)
c.308T>G (p.Val103Gly)
c.353T>G (p.Val118Gly)
c.350T>G (p.Val117Gly)
c.96T>G (p.Gly32=)
n.568T>G
c.236T>G (p.Val79Gly)
n.615T>G
dbSNP
21g.34880676A>GCA410202718RUNX1c.389T>C (p.Val130Ala)
c.308T>C (p.Val103Ala)
c.353T>C (p.Val118Ala)
c.350T>C (p.Val117Ala)
c.96T>C (p.Gly32=)
n.568T>C
c.236T>C (p.Val79Ala)
n.615T>C
21g.34880676A>TCA410202716RUNX1c.389T>A (p.Val130Asp)
c.308T>A (p.Val103Asp)
c.353T>A (p.Val118Asp)
c.350T>A (p.Val117Asp)
c.96T>A (p.Gly32=)
n.568T>A
c.236T>A (p.Val79Asp)
n.615T>A
ClinVar dbSNP
21g.34880677C>ACA410202719RUNX1c.388G>T (p.Val130Phe)
c.307G>T (p.Val103Phe)
c.352G>T (p.Val118Phe)
c.349G>T (p.Val117Phe)
c.95G>T (p.Gly32Val)
n.567G>T
c.235G>T (p.Val79Phe)
n.614G>T
dbSNP
21g.34880677C=CA2387294367RUNX1c.388G= (p.Val130=)
c.307G= (p.Val103=)
c.352G= (p.Val118=)
c.349G= (p.Val117=)
c.95G= (p.Gly32=)
n.567G=
c.235G= (p.Val79=)
n.614G=
21g.34880677C>GCA410202720RUNX1c.388G>C (p.Val130Leu)
c.307G>C (p.Val103Leu)
c.352G>C (p.Val118Leu)
c.349G>C (p.Val117Leu)
c.95G>C (p.Gly32Ala)
n.567G>C
c.235G>C (p.Val79Leu)
n.614G>C
dbSNP
21g.34880677C>TCA410202721RUNX1c.388G>A (p.Val130Ile)
c.307G>A (p.Val103Ile)
c.352G>A (p.Val118Ile)
c.349G>A (p.Val117Ile)
c.95G>A (p.Gly32Asp)
n.567G>A
c.235G>A (p.Val79Ile)
n.614G>A
ClinVar dbSNP
21g.34880678delCA658820846RUNX1c.388del (p.Val130SerfsTer3)
c.307del (p.Val103SerfsTer3)
c.352del (p.Val118SerfsTer3)
c.349del (p.Val117SerfsTer3)
c.95del (p.Gly32ValfsTer?)
n.567del
c.235del (p.Val79SerfsTer3)
n.614del
21g.34880677_34880678insACA645607401RUNX1c.387_388insT (p.Val130CysfsTer8)
c.306_307insT (p.Val103CysfsTer8)
c.351_352insT (p.Val118CysfsTer8)
c.348_349insT (p.Val117CysfsTer8)
c.94_95insT (p.Gly32ValfsTer4)
n.566_567insT
c.234_235insT (p.Val79CysfsTer8)
n.613_614insT
COSMIC COSMIC
21g.34880678C>ACA512318765RUNX1c.387G>T (p.Leu129=)
c.306G>T (p.Leu102=)
c.351G>T (p.Leu117=)
c.348G>T (p.Leu116=)
c.94G>T (p.Gly32Cys)
n.566G>T
c.234G>T (p.Leu78=)
n.613G>T
dbSNP gnomAD v3 gnomAD v4
21g.34880678C=CA2387294368RUNX1c.387G= (p.Leu129=)
c.306G= (p.Leu102=)
c.351G= (p.Leu117=)
c.348G= (p.Leu116=)
c.94G= (p.Gly32=)
n.566G=
c.234G= (p.Leu78=)
n.613G=
21g.34880678C>GCA512318763RUNX1c.387G>C (p.Leu129=)
c.306G>C (p.Leu102=)
c.351G>C (p.Leu117=)
c.348G>C (p.Leu116=)
c.94G>C (p.Gly32Arg)
n.566G>C
c.234G>C (p.Leu78=)
n.613G>C
dbSNP gnomAD v4
21g.34880678C>TCA512318764RUNX1c.387G>A (p.Leu129=)
c.306G>A (p.Leu102=)
c.351G>A (p.Leu117=)
c.348G>A (p.Leu116=)
c.94G>A (p.Gly32Ser)
n.566G>A
c.234G>A (p.Leu78=)
n.613G>A
dbSNP
21g.34880679A>CCA410202722RUNX1c.386T>G (p.Leu129Arg)
c.305T>G (p.Leu102Arg)
c.350T>G (p.Leu117Arg)
c.347T>G (p.Leu116Arg)
c.93T>G (p.Ser31=)
n.565T>G
c.233T>G (p.Leu78Arg)
n.612T>G
21g.34880679A>GCA410202723RUNX1c.386T>C (p.Leu129Pro)
c.305T>C (p.Leu102Pro)
c.350T>C (p.Leu117Pro)
c.347T>C (p.Leu116Pro)
c.93T>C (p.Ser31=)
n.565T>C
c.233T>C (p.Leu78Pro)
n.612T>C
21g.34880679A>TCA410202724RUNX1c.386T>A (p.Leu129Gln)
c.305T>A (p.Leu102Gln)
c.350T>A (p.Leu117Gln)
c.347T>A (p.Leu116Gln)
c.93T>A (p.Ser31=)
n.565T>A
c.233T>A (p.Leu78Gln)
n.612T>A
dbSNP
21g.34880679dupCA2580616389RUNX1c.386dup (p.Val130GlyfsTer8)
c.305dup (p.Val103GlyfsTer8)
c.350dup (p.Val118GlyfsTer8)
c.347dup (p.Val117GlyfsTer8)
c.93dup (p.Gly32TrpfsTer4)
n.565dup
c.233dup (p.Val79GlyfsTer8)
n.612dup
ClinVar
21g.34880681_34880682dupCA891842375RUNX1c.385_386dup (p.Val130TrpfsTer4)
c.304_305dup (p.Val103TrpfsTer4)
c.349_350dup (p.Val118TrpfsTer4)
c.346_347dup (p.Val117TrpfsTer4)
c.92_93dup (p.Gly32LeufsTer?)
n.564_565dup
c.232_233dup (p.Val79TrpfsTer4)
n.611_612dup
21g.34880680G>ACA512318766RUNX1c.385C>T (p.Leu129=)
c.304C>T (p.Leu102=)
c.349C>T (p.Leu117=)
c.346C>T (p.Leu116=)
c.92C>T (p.Ser31Phe)
n.564C>T
c.232C>T (p.Leu78=)
n.611C>T
dbSNP
21g.34880680G>CCA410202726RUNX1c.385C>G (p.Leu129Val)
c.304C>G (p.Leu102Val)
c.349C>G (p.Leu117Val)
c.346C>G (p.Leu116Val)
c.92C>G (p.Ser31Cys)
n.564C>G
c.232C>G (p.Leu78Val)
n.611C>G
dbSNP gnomAD v4
21g.34880680G>TCA410202725RUNX1c.385C>A (p.Leu129Met)
c.304C>A (p.Leu102Met)
c.349C>A (p.Leu117Met)
c.346C>A (p.Leu116Met)
c.92C>A (p.Ser31Tyr)
n.564C>A
c.232C>A (p.Leu78Met)
n.611C>A
21g.34880681A>CCA512318768RUNX1c.384T>G (p.Thr128=)
c.303T>G (p.Thr101=)
c.348T>G (p.Thr116=)
c.345T>G (p.Thr115=)
c.91T>G (p.Ser31Ala)
n.563T>G
c.231T>G (p.Thr77=)
n.610T>G
21g.34880681A>GCA512318767RUNX1c.384T>C (p.Thr128=)
c.303T>C (p.Thr101=)
c.348T>C (p.Thr116=)
c.345T>C (p.Thr115=)
c.91T>C (p.Ser31Pro)
n.563T>C
c.231T>C (p.Thr77=)
n.610T>C
ClinVar dbSNP COSMIC
21g.34880681A>TCA512318769RUNX1c.384T>A (p.Thr128=)
c.303T>A (p.Thr101=)
c.348T>A (p.Thr116=)
c.345T>A (p.Thr115=)
c.91T>A (p.Ser31Thr)
n.563T>A
c.231T>A (p.Thr77=)
n.610T>A
dbSNP
21g.34880682G>ACA410202727RUNX1c.383C>T (p.Thr128Ile)
c.302C>T (p.Thr101Ile)
c.347C>T (p.Thr116Ile)
c.344C>T (p.Thr115Ile)
c.90C>T (p.His30=)
n.562C>T
c.230C>T (p.Thr77Ile)
n.609C>T
21g.34880682G>CCA410202728RUNX1c.383C>G (p.Thr128Ser)
c.302C>G (p.Thr101Ser)
c.347C>G (p.Thr116Ser)
c.344C>G (p.Thr115Ser)
c.90C>G (p.His30Gln)
n.562C>G
c.230C>G (p.Thr77Ser)
n.609C>G
dbSNP
21g.34880682G>TCA410202729RUNX1c.383C>A (p.Thr128Asn)
c.302C>A (p.Thr101Asn)
c.347C>A (p.Thr116Asn)
c.344C>A (p.Thr115Asn)
c.90C>A (p.His30Gln)
n.562C>A
c.230C>A (p.Thr77Asn)
n.609C>A
21g.34880683T>ACA410202730RUNX1c.382A>T (p.Thr128Ser)
c.301A>T (p.Thr101Ser)
c.346A>T (p.Thr116Ser)
c.343A>T (p.Thr115Ser)
c.89A>T (p.His30Leu)
n.561A>T
c.229A>T (p.Thr77Ser)
n.608A>T
dbSNP
21g.34880683T>CCA410202731RUNX1c.382A>G (p.Thr128Ala)
c.301A>G (p.Thr101Ala)
c.346A>G (p.Thr116Ala)
c.343A>G (p.Thr115Ala)
c.89A>G (p.His30Arg)
n.561A>G
c.229A>G (p.Thr77Ala)
n.608A>G
COSMIC
21g.34880683T>GCA410202732RUNX1c.382A>C (p.Thr128Pro)
c.301A>C (p.Thr101Pro)
c.346A>C (p.Thr116Pro)
c.343A>C (p.Thr115Pro)
c.89A>C (p.His30Pro)
n.561A>C
c.229A>C (p.Thr77Pro)
n.608A>C
dbSNP
21g.34880683_34880686delCA645607402RUNX1c.379_382del (p.Gly127LeufsTer5)
c.298_301del (p.Gly100LeufsTer5)
c.343_346del (p.Gly115LeufsTer5)
c.340_343del (p.Gly114LeufsTer5)
c.86_89del (p.Trp29SerfsTer?)
n.558_561del
c.226_229del (p.Gly76LeufsTer5)
n.605_608del
COSMIC COSMIC
21g.34880684G>ACA512318771RUNX1c.381C>T (p.Gly127=)
c.300C>T (p.Gly100=)
c.345C>T (p.Gly115=)
c.342C>T (p.Gly114=)
c.88C>T (p.His30Tyr)
n.560C>T
c.228C>T (p.Gly76=)
n.607C>T
21g.34880684G>CCA512318772RUNX1c.381C>G (p.Gly127=)
c.300C>G (p.Gly100=)
c.345C>G (p.Gly115=)
c.342C>G (p.Gly114=)
c.88C>G (p.His30Asp)
n.560C>G
c.228C>G (p.Gly76=)
n.607C>G
21g.34880684G>TCA512318770RUNX1c.381C>A (p.Gly127=)
c.300C>A (p.Gly100=)
c.345C>A (p.Gly115=)
c.342C>A (p.Gly114=)
c.88C>A (p.His30Asn)
n.560C>A
c.228C>A (p.Gly76=)
n.607C>A
21g.34880684_34880685dupCA2654380171RUNX1c.380_381dup (p.Thr128AlafsTer6)
c.299_300dup (p.Thr101AlafsTer6)
c.344_345dup (p.Thr116AlafsTer6)
c.341_342dup (p.Thr115AlafsTer6)
c.87_88dup (p.His30ArgfsTer?)
n.559_560dup
c.227_228dup (p.Thr77AlafsTer6)
n.606_607dup
gnomAD v4
21g.34880685C>ACA410202733RUNX1c.380G>T (p.Gly127Val)
c.299G>T (p.Gly100Val)
c.344G>T (p.Gly115Val)
c.341G>T (p.Gly114Val)
c.87G>T (p.Trp29Cys)
n.559G>T
c.227G>T (p.Gly76Val)
n.606G>T
ClinVar dbSNP
21g.34880685C>GCA410202735RUNX1c.380G>C (p.Gly127Ala)
c.299G>C (p.Gly100Ala)
c.344G>C (p.Gly115Ala)
c.341G>C (p.Gly114Ala)
c.87G>C (p.Trp29Cys)
n.559G>C
c.227G>C (p.Gly76Ala)
n.606G>C
dbSNP
21g.34880685C>TCA410202734RUNX1c.380G>A (p.Gly127Asp)
c.299G>A (p.Gly100Asp)
c.344G>A (p.Gly115Asp)
c.341G>A (p.Gly114Asp)
c.87G>A (p.Trp29Ter)
n.559G>A
c.227G>A (p.Gly76Asp)
n.606G>A
dbSNP COSMIC COSMIC
21g.34880686C>ACA410202736RUNX1c.379G>T (p.Gly127Cys)
c.298G>T (p.Gly100Cys)
c.343G>T (p.Gly115Cys)
c.340G>T (p.Gly114Cys)
c.86G>T (p.Trp29Leu)
n.558G>T
c.226G>T (p.Gly76Cys)
n.605G>T
21g.34880686C>GCA410202737RUNX1c.379G>C (p.Gly127Arg)
c.298G>C (p.Gly100Arg)
c.343G>C (p.Gly115Arg)
c.340G>C (p.Gly114Arg)
c.86G>C (p.Trp29Ser)
n.558G>C
c.226G>C (p.Gly76Arg)
n.605G>C
dbSNP
21g.34880686C>TCA410202738RUNX1c.379G>A (p.Gly127Ser)
c.298G>A (p.Gly100Ser)
c.343G>A (p.Gly115Ser)
c.340G>A (p.Gly114Ser)
c.86G>A (p.Trp29Ter)
n.558G>A
c.226G>A (p.Gly76Ser)
n.605G>A
dbSNP
21g.34880687A=CA2387294369RUNX1c.378T= (p.Asp126=)
c.297T= (p.Asp99=)
c.342T= (p.Asp114=)
c.339T= (p.Asp113=)
c.85T= (p.Trp29=)
n.557T=
c.225T= (p.Asp75=)
n.604T=
21g.34880687A>CCA410202739RUNX1c.378T>G (p.Asp126Glu)
c.297T>G (p.Asp99Glu)
c.342T>G (p.Asp114Glu)
c.339T>G (p.Asp113Glu)
c.85T>G (p.Trp29Gly)
n.557T>G
c.225T>G (p.Asp75Glu)
n.604T>G
ClinVar dbSNP
21g.34880687A>GCA512318773RUNX1c.378T>C (p.Asp126=)
c.297T>C (p.Asp99=)
c.342T>C (p.Asp114=)
c.339T>C (p.Asp113=)
c.85T>C (p.Trp29Arg)
n.557T>C
c.225T>C (p.Asp75=)
n.604T>C
dbSNP
21g.34880687A>TCA410202740RUNX1c.378T>A (p.Asp126Glu)
c.297T>A (p.Asp99Glu)
c.342T>A (p.Asp114Glu)
c.339T>A (p.Asp113Glu)
c.85T>A (p.Trp29Arg)
n.557T>A
c.225T>A (p.Asp75Glu)
n.604T>A
dbSNP
21g.34880688T>ACA410202741RUNX1c.377A>T (p.Asp126Val)
c.296A>T (p.Asp99Val)
c.341A>T (p.Asp114Val)
c.338A>T (p.Asp113Val)
c.84A>T (p.Arg28Ser)
n.556A>T
c.224A>T (p.Asp75Val)
n.603A>T
dbSNP
21g.34880688T>CCA410202742RUNX1c.377A>G (p.Asp126Gly)
c.296A>G (p.Asp99Gly)
c.341A>G (p.Asp114Gly)
c.338A>G (p.Asp113Gly)
c.84A>G (p.Arg28=)
n.556A>G
c.224A>G (p.Asp75Gly)
n.603A>G
21g.34880688T>GCA410202743RUNX1c.377A>C (p.Asp126Ala)
c.296A>C (p.Asp99Ala)
c.341A>C (p.Asp114Ala)
c.338A>C (p.Asp113Ala)
c.84A>C (p.Arg28Ser)
n.556A>C
c.224A>C (p.Asp75Ala)
n.603A>C
21g.34880688dupCA645607403RUNX1c.377dup (p.Asp126GlufsTer12)
c.296dup (p.Asp99GlufsTer12)
c.341dup (p.Asp114GlufsTer12)
c.338dup (p.Asp113GlufsTer12)
c.84dup (p.Trp29MetfsTer7)
n.556dup
c.224dup (p.Asp75GlufsTer12)
n.603dup
COSMIC COSMIC COSMIC COSMIC
21g.34880689C>ACA410202744RUNX1c.376G>T (p.Asp126Tyr)
c.295G>T (p.Asp99Tyr)
c.340G>T (p.Asp114Tyr)
c.337G>T (p.Asp113Tyr)
c.83G>T (p.Arg28Ile)
n.555G>T
c.223G>T (p.Asp75Tyr)
n.602G>T
21g.34880689C>GCA410202745RUNX1c.376G>C (p.Asp126His)
c.295G>C (p.Asp99His)
c.340G>C (p.Asp114His)
c.337G>C (p.Asp113His)
c.83G>C (p.Arg28Thr)
n.555G>C
c.223G>C (p.Asp75His)
n.602G>C
dbSNP
21g.34880689C>TCA410202746RUNX1c.376G>A (p.Asp126Asn)
c.295G>A (p.Asp99Asn)
c.340G>A (p.Asp114Asn)
c.337G>A (p.Asp113Asn)
c.83G>A (p.Arg28Lys)
n.555G>A
c.223G>A (p.Asp75Asn)
n.602G>A
dbSNP
21g.34880690T>ACA512318775RUNX1c.375A>T (p.Pro125=)
c.294A>T (p.Pro98=)
c.339A>T (p.Pro113=)
c.336A>T (p.Pro112=)
c.82A>T (p.Arg28Ter)
n.554A>T
c.222A>T (p.Pro74=)
n.601A>T
21g.34880690T>CCA512318776RUNX1c.375A>G (p.Pro125=)
c.294A>G (p.Pro98=)
c.339A>G (p.Pro113=)
c.336A>G (p.Pro112=)
c.82A>G (p.Arg28Gly)
n.554A>G
c.222A>G (p.Pro74=)
n.601A>G
ClinVar dbSNP
21g.34880690T>GCA512318774RUNX1c.375A>C (p.Pro125=)
c.294A>C (p.Pro98=)
c.339A>C (p.Pro113=)
c.336A>C (p.Pro112=)
c.82A>C (p.Arg28=)
n.554A>C
c.222A>C (p.Pro74=)
n.601A>C
21g.34880690T=CA2387294370RUNX1c.375A= (p.Pro125=)
c.294A= (p.Pro98=)
c.339A= (p.Pro113=)
c.336A= (p.Pro112=)
c.82A= (p.Arg28=)
n.554A=
c.222A= (p.Pro74=)
n.601A=
21g.34880691G>ACA410202749RUNX1c.374C>T (p.Pro125Leu)
c.293C>T (p.Pro98Leu)
c.338C>T (p.Pro113Leu)
c.335C>T (p.Pro112Leu)
c.81C>T (p.Ser27=)
n.553C>T
c.221C>T (p.Pro74Leu)
n.600C>T
dbSNP
21g.34880691G>CCA410202748RUNX1c.374C>G (p.Pro125Arg)
c.293C>G (p.Pro98Arg)
c.338C>G (p.Pro113Arg)
c.335C>G (p.Pro112Arg)
c.81C>G (p.Ser27=)
n.553C>G
c.221C>G (p.Pro74Arg)
n.600C>G
dbSNP
21g.34880691G>TCA410202747RUNX1c.374C>A (p.Pro125Gln)
c.293C>A (p.Pro98Gln)
c.338C>A (p.Pro113Gln)
c.335C>A (p.Pro112Gln)
c.81C>A (p.Ser27=)
n.553C>A
c.221C>A (p.Pro74Gln)
n.600C>A
21g.34880692delCA512318777RUNX1c.374del (p.Pro125GlnfsTer8)
c.293del (p.Pro98GlnfsTer8)
c.338del (p.Pro113GlnfsTer8)
c.335del (p.Pro112GlnfsTer8)
c.81del (p.Arg28AspfsTer?)
n.553del
c.221del (p.Pro74GlnfsTer8)
n.600del
COSMIC COSMIC COSMIC
21g.34880692G>ACA410202750RUNX1c.373C>T (p.Pro125Ser)
c.292C>T (p.Pro98Ser)
c.337C>T (p.Pro113Ser)
c.334C>T (p.Pro112Ser)
c.80C>T (p.Ser27Phe)
n.552C>T
c.220C>T (p.Pro74Ser)
n.599C>T
ClinVar dbSNP
21g.34880692G>CCA410202752RUNX1c.373C>G (p.Pro125Ala)
c.292C>G (p.Pro98Ala)
c.337C>G (p.Pro113Ala)
c.334C>G (p.Pro112Ala)
c.80C>G (p.Ser27Cys)
n.552C>G
c.220C>G (p.Pro74Ala)
n.599C>G
dbSNP
21g.34880692G=CA2387294371RUNX1c.373C= (p.Pro125=)
c.292C= (p.Pro98=)
c.337C= (p.Pro113=)
c.334C= (p.Pro112=)
c.80C= (p.Ser27=)
n.552C=
c.220C= (p.Pro74=)
n.599C=
21g.34880692G>TCA410202751RUNX1c.373C>A (p.Pro125Thr)
c.292C>A (p.Pro98Thr)
c.337C>A (p.Pro113Thr)
c.334C>A (p.Pro112Thr)
c.80C>A (p.Ser27Tyr)
n.552C>A
c.220C>A (p.Pro74Thr)
n.599C>A
dbSNP
21g.34880692_34880693insTTGCTCAACACA645607404RUNX1c.372_373insTGTTGAGCAA (p.Pro125CysfsTer2)
c.291_292insTGTTGAGCAA (p.Pro98CysfsTer2)
c.336_337insTGTTGAGCAA (p.Pro113CysfsTer2)
c.333_334insTGTTGAGCAA (p.Pro112CysfsTer2)
c.79_80insTGTTGAGCAA (p.Ser27LeufsTer12)
n.551_552insTGTTGAGCAA
c.219_220insTGTTGAGCAA (p.Pro74CysfsTer2)
n.598_599insTGTTGAGCAA
COSMIC COSMIC
21g.34880693A=CA2387294372RUNX1c.372T= (p.Val124=)
c.291T= (p.Val97=)
c.336T= (p.Val112=)
c.333T= (p.Val111=)
c.79T= (p.Ser27=)
n.551T=
c.219T= (p.Val73=)
n.598T=
21g.34880693A>CCA512318781RUNX1c.372T>G (p.Val124=)
c.291T>G (p.Val97=)
c.336T>G (p.Val112=)
c.333T>G (p.Val111=)
c.79T>G (p.Ser27Ala)
n.551T>G
c.219T>G (p.Val73=)
n.598T>G
dbSNP
21g.34880693A>GCA512318780RUNX1c.372T>C (p.Val124=)
c.291T>C (p.Val97=)
c.336T>C (p.Val112=)
c.333T>C (p.Val111=)
c.79T>C (p.Ser27Pro)
n.551T>C
c.219T>C (p.Val73=)
n.598T>C
dbSNP
21g.34880693A>TCA512318779RUNX1c.372T>A (p.Val124=)
c.291T>A (p.Val97=)
c.336T>A (p.Val112=)
c.333T>A (p.Val111=)
c.79T>A (p.Ser27Thr)
n.551T>A
c.219T>A (p.Val73=)
n.598T>A
dbSNP
21g.34880693_34880694insTTGCTCAACACA645607405RUNX1c.372_373insGTTGAGCAAT (p.Pro125ValfsTer16)
c.291_292insGTTGAGCAAT (p.Pro98ValfsTer16)
c.336_337insGTTGAGCAAT (p.Pro113ValfsTer16)
c.333_334insGTTGAGCAAT (p.Pro112ValfsTer16)
c.79_80insGTTGAGCAAT (p.Ser27CysfsTer2)
n.551_552insGTTGAGCAAT
c.219_220insGTTGAGCAAT (p.Pro74ValfsTer16)
n.598_599insGTTGAGCAAT
COSMIC
21g.34880694delCA512318778RUNX1c.372del (p.Pro125GlnfsTer8)
c.291del (p.Pro98GlnfsTer8)
c.336del (p.Pro113GlnfsTer8)
c.333del (p.Pro112GlnfsTer8)
c.79del (p.Ser27ProfsTer?)
n.551del
c.219del (p.Pro74GlnfsTer8)
n.598del
21g.34880694A>CCA410202753RUNX1c.371T>G (p.Val124Gly)
c.290T>G (p.Val97Gly)
c.335T>G (p.Val112Gly)
c.332T>G (p.Val111Gly)
c.78T>G (p.Cys26Trp)
n.550T>G
c.218T>G (p.Val73Gly)
n.597T>G
dbSNP
21g.34880694A>GCA410202755RUNX1c.371T>C (p.Val124Ala)
c.290T>C (p.Val97Ala)
c.335T>C (p.Val112Ala)
c.332T>C (p.Val111Ala)
c.78T>C (p.Cys26=)
n.550T>C
c.218T>C (p.Val73Ala)
n.597T>C
dbSNP
21g.34880694A>TCA410202754RUNX1c.371T>A (p.Val124Asp)
c.290T>A (p.Val97Asp)
c.335T>A (p.Val112Asp)
c.332T>A (p.Val111Asp)
c.78T>A (p.Cys26Ter)
n.550T>A
c.218T>A (p.Val73Asp)
n.597T>A
dbSNP
21g.34880695C>ACA410202756RUNX1c.370G>T (p.Val124Phe)
c.289G>T (p.Val97Phe)
c.334G>T (p.Val112Phe)
c.331G>T (p.Val111Phe)
c.77G>T (p.Cys26Phe)
n.549G>T
c.217G>T (p.Val73Phe)
n.596G>T
21g.34880695C>GCA410202757RUNX1c.370G>C (p.Val124Leu)
c.289G>C (p.Val97Leu)
c.334G>C (p.Val112Leu)
c.331G>C (p.Val111Leu)
c.77G>C (p.Cys26Ser)
n.549G>C
c.217G>C (p.Val73Leu)
n.596G>C
dbSNP
21g.34880695C>TCA410202758RUNX1c.370G>A (p.Val124Ile)
c.289G>A (p.Val97Ile)
c.334G>A (p.Val112Ile)
c.331G>A (p.Val111Ile)
c.77G>A (p.Cys26Tyr)
n.549G>A
c.217G>A (p.Val73Ile)
n.596G>A
dbSNP
21g.34880696_34880699dupCA645607406RUNX1c.367_370dup (p.Val124GlyfsTer15)
c.286_289dup (p.Val97GlyfsTer15)
c.331_334dup (p.Val112GlyfsTer15)
c.328_331dup (p.Val111GlyfsTer15)
c.74_77dup (p.Cys26TrpfsTer11)
n.546_549dup
c.214_217dup (p.Val73GlyfsTer15)
n.593_596dup
COSMIC COSMIC
21g.34880695_34880696insGGGATCA2573051253RUNX1c.369_370insATCCC (p.Val124IlefsTer11)
c.288_289insATCCC (p.Val97IlefsTer11)
c.333_334insATCCC (p.Val112IlefsTer11)
c.330_331insATCCC (p.Val111IlefsTer11)
c.76_77insATCCC (p.Cys26TyrfsTer?)
n.548_549insATCCC
c.216_217insATCCC (p.Val73IlefsTer11)
n.595_596insATCCC
21g.34880696A=CA2387294373RUNX1c.369T= (p.Asp123=)
c.288T= (p.Asp96=)
c.333T= (p.Asp111=)
c.330T= (p.Asp110=)
c.76T= (p.Cys26=)
n.548T=
c.216T= (p.Asp72=)
n.595T=
21g.34880696A>CCA410202759RUNX1c.369T>G (p.Asp123Glu)
c.288T>G (p.Asp96Glu)
c.333T>G (p.Asp111Glu)
c.330T>G (p.Asp110Glu)
c.76T>G (p.Cys26Gly)
n.548T>G
c.216T>G (p.Asp72Glu)
n.595T>G
dbSNP
21g.34880696A>GCA512318782RUNX1c.369T>C (p.Asp123=)
c.288T>C (p.Asp96=)
c.333T>C (p.Asp111=)
c.330T>C (p.Asp110=)
c.76T>C (p.Cys26Arg)
n.548T>C
c.216T>C (p.Asp72=)
n.595T>C
dbSNP
21g.34880696A>TCA10014523RUNX1c.369T>A (p.Asp123Glu)
c.288T>A (p.Asp96Glu)
c.333T>A (p.Asp111Glu)
c.330T>A (p.Asp110Glu)
c.76T>A (p.Cys26Ser)
n.548T>A
c.216T>A (p.Asp72Glu)
n.595T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880697T>ACA410202760RUNX1c.368A>T (p.Asp123Val)
c.287A>T (p.Asp96Val)
c.332A>T (p.Asp111Val)
c.329A>T (p.Asp110Val)
c.75A>T (p.Gly25=)
n.547A>T
c.215A>T (p.Asp72Val)
n.594A>T
dbSNP gnomAD v4
21g.34880697T>CCA410202761RUNX1c.368A>G (p.Asp123Gly)
c.287A>G (p.Asp96Gly)
c.332A>G (p.Asp111Gly)
c.329A>G (p.Asp110Gly)
c.75A>G (p.Gly25=)
n.547A>G
c.215A>G (p.Asp72Gly)
n.594A>G
ClinVar dbSNP
21g.34880697T>GCA410202762RUNX1c.368A>C (p.Asp123Ala)
c.287A>C (p.Asp96Ala)
c.332A>C (p.Asp111Ala)
c.329A>C (p.Asp110Ala)
c.75A>C (p.Gly25=)
n.547A>C
c.215A>C (p.Asp72Ala)
n.594A>C
21g.34880697T=CA2387294374RUNX1c.368A= (p.Asp123=)
c.287A= (p.Asp96=)
c.332A= (p.Asp111=)
c.329A= (p.Asp110=)
c.75A= (p.Gly25=)
n.547A=
c.215A= (p.Asp72=)
n.594A=
21g.34880699_34880700insTCGTCTCTCCCA2695202415RUNX1c.368_369insGAGACGAGGA (p.Asp123GlufsTer18)
c.287_288insGAGACGAGGA (p.Asp96GlufsTer18)
c.332_333insGAGACGAGGA (p.Asp111GlufsTer18)
c.329_330insGAGACGAGGA (p.Asp110GlufsTer18)
c.75_76insGAGACGAGGA (p.Cys26GlufsTer13)
n.547_548insGAGACGAGGA
c.215_216insGAGACGAGGA (p.Asp72GlufsTer18)
n.594_595insGAGACGAGGA
21g.34880698C>ACA410202763RUNX1c.367G>T (p.Asp123Tyr)
c.286G>T (p.Asp96Tyr)
c.331G>T (p.Asp111Tyr)
c.328G>T (p.Asp110Tyr)
c.74G>T (p.Gly25Val)
n.546G>T
c.214G>T (p.Asp72Tyr)
n.593G>T
dbSNP gnomAD v4
21g.34880698C=CA2387294375RUNX1c.367G= (p.Asp123=)
c.286G= (p.Asp96=)
c.331G= (p.Asp111=)
c.328G= (p.Asp110=)
c.74G= (p.Gly25=)
n.546G=
c.214G= (p.Asp72=)
n.593G=
21g.34880698C>GCA10014524RUNX1c.367G>C (p.Asp123His)
c.286G>C (p.Asp96His)
c.331G>C (p.Asp111His)
c.328G>C (p.Asp110His)
c.74G>C (p.Gly25Ala)
n.546G>C
c.214G>C (p.Asp72His)
n.593G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880698C>TCA10014525RUNX1c.367G>A (p.Asp123Asn)
c.286G>A (p.Asp96Asn)
c.331G>A (p.Asp111Asn)
c.328G>A (p.Asp110Asn)
c.74G>A (p.Gly25Glu)
n.546G>A
c.214G>A (p.Asp72Asn)
n.593G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880700_34880701insGGGAAGGGATCCCCCA2695202660RUNX1c.367_368insGATCCCTTCCCGGG (p.Asp123GlyfsTer15)
c.286_287insGATCCCTTCCCGGG (p.Asp96GlyfsTer15)
c.331_332insGATCCCTTCCCGGG (p.Asp111GlyfsTer15)
c.328_329insGATCCCTTCCCGGG (p.Asp110GlyfsTer15)
c.74_75insGATCCCTTCCCGGG (p.Cys26IlefsTer?)
n.546_547insGATCCCTTCCCGGG
c.214_215insGATCCCTTCCCGGG (p.Asp72GlyfsTer15)
n.593_594insGATCCCTTCCCGGG
21g.34880701dupCA645607409RUNX1c.367dup (p.Asp123GlyfsTer15)
c.286dup (p.Asp96GlyfsTer15)
c.331dup (p.Asp111GlyfsTer15)
c.328dup (p.Asp110GlyfsTer15)
c.74dup (p.Cys26MetfsTer10)
n.546dup
c.214dup (p.Asp72GlyfsTer15)
n.593dup
COSMIC COSMIC
21g.34880700_34880701dupCA645607407RUNX1c.366_367dup (p.Asp123GlyfsTer11)
c.285_286dup (p.Asp96GlyfsTer11)
c.330_331dup (p.Asp111GlyfsTer11)
c.327_328dup (p.Asp110GlyfsTer11)
c.73_74dup (p.Cys26AspfsTer?)
n.545_546dup
c.213_214dup (p.Asp72GlyfsTer11)
n.592_593dup
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
21g.34880701delCA645607408RUNX1c.367del (p.Asp123MetfsTer10)
c.286del (p.Asp96MetfsTer10)
c.331del (p.Asp111MetfsTer10)
c.328del (p.Asp110MetfsTer10)
c.74del (p.Gly25AspfsTer?)
n.546del
c.214del (p.Asp72MetfsTer10)
n.593del
COSMIC COSMIC
21g.34880698_34880699insGCA512318786RUNX1c.366_367insC (p.Asp123ArgfsTer15)
c.285_286insC (p.Asp96ArgfsTer15)
c.330_331insC (p.Asp111ArgfsTer15)
c.327_328insC (p.Asp110ArgfsTer15)
c.73_74insC (p.Gly25AlafsTer11)
n.545_546insC
c.213_214insC (p.Asp72ArgfsTer15)
n.592_593insC
21g.34880699C>ACA512318784RUNX1c.366G>T (p.Gly122=)
c.285G>T (p.Gly95=)
c.330G>T (p.Gly110=)
c.327G>T (p.Gly109=)
c.73G>T (p.Gly25Ter)
n.545G>T
c.213G>T (p.Gly71=)
n.592G>T
dbSNP
21g.34880699C>GCA512318785RUNX1c.366G>C (p.Gly122=)
c.285G>C (p.Gly95=)
c.330G>C (p.Gly110=)
c.327G>C (p.Gly109=)
c.73G>C (p.Gly25Arg)
n.545G>C
c.213G>C (p.Gly71=)
n.592G>C
dbSNP
21g.34880699C>TCA512318783RUNX1c.366G>A (p.Gly122=)
c.285G>A (p.Gly95=)
c.330G>A (p.Gly110=)
c.327G>A (p.Gly109=)
c.73G>A (p.Gly25Arg)
n.545G>A
c.213G>A (p.Gly71=)
n.592G>A
dbSNP gnomAD v4
21g.34880700C>ACA410202766RUNX1c.365G>T (p.Gly122Val)
c.284G>T (p.Gly95Val)
c.329G>T (p.Gly110Val)
c.326G>T (p.Gly109Val)
c.72G>T (p.Arg24Ser)
n.544G>T
c.212G>T (p.Gly71Val)
n.591G>T
dbSNP
21g.34880700C>GCA410202765RUNX1c.365G>C (p.Gly122Ala)
c.284G>C (p.Gly95Ala)
c.329G>C (p.Gly110Ala)
c.326G>C (p.Gly109Ala)
c.72G>C (p.Arg24Ser)
n.544G>C
c.212G>C (p.Gly71Ala)
n.591G>C
dbSNP
21g.34880700C>TCA410202764RUNX1c.365G>A (p.Gly122Glu)
c.284G>A (p.Gly95Glu)
c.329G>A (p.Gly110Glu)
c.326G>A (p.Gly109Glu)
c.72G>A (p.Arg24=)
n.544G>A
c.212G>A (p.Gly71Glu)
n.591G>A
dbSNP
21g.34880701C>ACA410202767RUNX1c.364G>T (p.Gly122Trp)
c.283G>T (p.Gly95Trp)
c.328G>T (p.Gly110Trp)
c.325G>T (p.Gly109Trp)
c.71G>T (p.Arg24Met)
n.543G>T
c.211G>T (p.Gly71Trp)
n.590G>T
dbSNP
21g.34880701C=CA2387294376RUNX1c.364G= (p.Gly122=)
c.283G= (p.Gly95=)
c.328G= (p.Gly110=)
c.325G= (p.Gly109=)
c.71G= (p.Arg24=)
n.543G=
c.211G= (p.Gly71=)
n.590G=
21g.34880701C>GCA410202768RUNX1c.364G>C (p.Gly122Arg)
c.283G>C (p.Gly95Arg)
c.328G>C (p.Gly110Arg)
c.325G>C (p.Gly109Arg)
c.71G>C (p.Arg24Thr)
n.543G>C
c.211G>C (p.Gly71Arg)
n.590G>C
dbSNP COSMIC COSMIC
21g.34880701C>TCA410202769RUNX1c.364G>A (p.Gly122Arg)
c.283G>A (p.Gly95Arg)
c.328G>A (p.Gly110Arg)
c.325G>A (p.Gly109Arg)
c.71G>A (p.Arg24Lys)
n.543G>A
c.211G>A (p.Gly71Arg)
n.590G>A
dbSNP
21g.34880702T>ACA512318789RUNX1c.363A>T (p.Leu121=)
c.282A>T (p.Leu94=)
c.327A>T (p.Leu109=)
c.324A>T (p.Leu108=)
c.70A>T (p.Arg24Trp)
n.542A>T
c.210A>T (p.Leu70=)
n.589A>T
dbSNP
21g.34880702T>CCA512318787RUNX1c.363A>G (p.Leu121=)
c.282A>G (p.Leu94=)
c.327A>G (p.Leu109=)
c.324A>G (p.Leu108=)
c.70A>G (p.Arg24Gly)
n.542A>G
c.210A>G (p.Leu70=)
n.589A>G
ClinVar
21g.34880702T>GCA512318788RUNX1c.363A>C (p.Leu121=)
c.282A>C (p.Leu94=)
c.327A>C (p.Leu109=)
c.324A>C (p.Leu108=)
c.70A>C (p.Arg24=)
n.542A>C
c.210A>C (p.Leu70=)
n.589A>C
21g.34880702dupCA2387294377RUNX1c.363dup (p.Gly122ArgfsTer16)
c.282dup (p.Gly95ArgfsTer16)
c.327dup (p.Gly110ArgfsTer16)
c.324dup (p.Gly109ArgfsTer16)
c.70dup (p.Arg24LysfsTer12)
n.542dup
c.210dup (p.Gly71ArgfsTer16)
n.589dup
dbSNP
21g.34880703A>CCA410202770RUNX1c.362T>G (p.Leu121Arg)
c.281T>G (p.Leu94Arg)
c.326T>G (p.Leu109Arg)
c.323T>G (p.Leu108Arg)
c.69T>G (p.Pro23=)
n.541T>G
c.209T>G (p.Leu70Arg)
n.588T>G
21g.34880703A>GCA410202771RUNX1c.362T>C (p.Leu121Pro)
c.281T>C (p.Leu94Pro)
c.326T>C (p.Leu109Pro)
c.323T>C (p.Leu108Pro)
c.69T>C (p.Pro23=)
n.541T>C
c.209T>C (p.Leu70Pro)
n.588T>C
21g.34880703A>TCA410202772RUNX1c.362T>A (p.Leu121Gln)
c.281T>A (p.Leu94Gln)
c.326T>A (p.Leu109Gln)
c.323T>A (p.Leu108Gln)
c.69T>A (p.Pro23=)
n.541T>A
c.209T>A (p.Leu70Gln)
n.588T>A
21g.34880704G>ACA512318790RUNX1c.361C>T (p.Leu121=)
c.280C>T (p.Leu94=)
c.325C>T (p.Leu109=)
c.322C>T (p.Leu108=)
c.68C>T (p.Pro23Leu)
n.540C>T
c.208C>T (p.Leu70=)
n.587C>T
ClinVar dbSNP
21g.34880704G>CCA410202773RUNX1c.361C>G (p.Leu121Val)
c.280C>G (p.Leu94Val)
c.325C>G (p.Leu109Val)
c.322C>G (p.Leu108Val)
c.68C>G (p.Pro23Arg)
n.540C>G
c.208C>G (p.Leu70Val)
n.587C>G
ClinVar dbSNP
21g.34880704G>TCA410202774RUNX1c.361C>A (p.Leu121Ile)
c.280C>A (p.Leu94Ile)
c.325C>A (p.Leu109Ile)
c.322C>A (p.Leu108Ile)
c.68C>A (p.Pro23His)
n.540C>A
c.208C>A (p.Leu70Ile)
n.587C>A
ClinVar dbSNP gnomAD v4
21g.34880706dupCA645607410RUNX1c.361dup (p.Leu121ProfsTer17)
c.280dup (p.Leu94ProfsTer17)
c.325dup (p.Leu109ProfsTer17)
c.322dup (p.Leu108ProfsTer17)
c.68dup (p.Arg24Ter)
n.540dup
c.208dup (p.Leu70ProfsTer17)
n.587dup
COSMIC COSMIC
21g.34880705_34880706dupCA645607411RUNX1c.360_361dup (p.Leu121ProfsTer2)
c.279_280dup (p.Leu94ProfsTer2)
c.324_325dup (p.Leu109ProfsTer2)
c.321_322dup (p.Leu108ProfsTer2)
c.67_68dup (p.Arg24LeufsTer?)
n.539_540dup
c.207_208dup (p.Leu70ProfsTer2)
n.586_587dup
COSMIC
21g.34880705G>ACA512318791RUNX1c.360C>T (p.Ala120=)
c.279C>T (p.Ala93=)
c.324C>T (p.Ala108=)
c.321C>T (p.Ala107=)
c.67C>T (p.Pro23Ser)
n.539C>T
c.207C>T (p.Ala69=)
n.586C>T
dbSNP
21g.34880705G>CCA512318793RUNX1c.360C>G (p.Ala120=)
c.279C>G (p.Ala93=)
c.324C>G (p.Ala108=)
c.321C>G (p.Ala107=)
c.67C>G (p.Pro23Ala)
n.539C>G
c.207C>G (p.Ala69=)
n.586C>G
dbSNP
21g.34880705G>TCA512318792RUNX1c.360C>A (p.Ala120=)
c.279C>A (p.Ala93=)
c.324C>A (p.Ala108=)
c.321C>A (p.Ala107=)
c.67C>A (p.Pro23Thr)
n.539C>A
c.207C>A (p.Ala69=)
n.586C>A
dbSNP
21g.34880706G>ACA410202775RUNX1c.359C>T (p.Ala120Val)
c.278C>T (p.Ala93Val)
c.323C>T (p.Ala108Val)
c.320C>T (p.Ala107Val)
c.66C>T (p.Gly22=)
n.538C>T
c.206C>T (p.Ala69Val)
n.585C>T
21g.34880706G>CCA410202776RUNX1c.359C>G (p.Ala120Gly)
c.278C>G (p.Ala93Gly)
c.323C>G (p.Ala108Gly)
c.320C>G (p.Ala107Gly)
c.66C>G (p.Gly22=)
n.538C>G
c.206C>G (p.Ala69Gly)
n.585C>G
21g.34880706G=CA2387294379RUNX1c.359C= (p.Ala120=)
c.278C= (p.Ala93=)
c.323C= (p.Ala108=)
c.320C= (p.Ala107=)
c.66C= (p.Gly22=)
n.538C=
c.206C= (p.Ala69=)
n.585C=
21g.34880706G>TCA410202777RUNX1c.359C>A (p.Ala120Asp)
c.278C>A (p.Ala93Asp)
c.323C>A (p.Ala108Asp)
c.320C>A (p.Ala107Asp)
c.66C>A (p.Gly22=)
n.538C>A
c.206C>A (p.Ala69Asp)
n.585C>A
dbSNP gnomAD v4
21g.34880706_34880709delinsGCCACA2387294378RUNX1c.356_359delinsTGGC (p.Val119=)
c.275_278delinsTGGC (p.Val92=)
c.320_323delinsTGGC (p.Val107=)
c.317_320delinsTGGC (p.Val106=)
c.63_66delinsTGGC (p.Gly21=)
n.535_538delinsTGGC
c.203_206delinsTGGC (p.Val68=)
n.582_585delinsTGGC
21g.34880707C>ACA410202780RUNX1c.358G>T (p.Ala120Ser)
c.277G>T (p.Ala93Ser)
c.322G>T (p.Ala108Ser)
c.319G>T (p.Ala107Ser)
c.65G>T (p.Gly22Val)
n.537G>T
c.205G>T (p.Ala69Ser)
n.584G>T
21g.34880707C>GCA410202779RUNX1c.358G>C (p.Ala120Pro)
c.277G>C (p.Ala93Pro)
c.322G>C (p.Ala108Pro)
c.319G>C (p.Ala107Pro)
c.65G>C (p.Gly22Ala)
n.537G>C
c.205G>C (p.Ala69Pro)
n.584G>C
21g.34880707C>TCA410202778RUNX1c.358G>A (p.Ala120Thr)
c.277G>A (p.Ala93Thr)
c.322G>A (p.Ala108Thr)
c.319G>A (p.Ala107Thr)
c.65G>A (p.Gly22Asp)
n.537G>A
c.205G>A (p.Ala69Thr)
n.584G>A
ClinVar dbSNP
21g.34880707_34880708insACCA645607412RUNX1c.358_359insTG (p.Ala120ValfsTer3)
c.277_278insTG (p.Ala93ValfsTer3)
c.322_323insTG (p.Ala108ValfsTer3)
c.319_320insTG (p.Ala107ValfsTer3)
c.65_66insTG (p.Pro23AlafsTer?)
n.537_538insTG
c.205_206insTG (p.Ala69ValfsTer3)
n.584_585insTG
COSMIC
21g.34880708delCA512318794RUNX1c.358del (p.Ala120ProfsTer2)
c.277del (p.Ala93ProfsTer2)
c.322del (p.Ala108ProfsTer2)
c.319del (p.Ala107ProfsTer2)
c.65del (p.Gly22AlafsTer?)
n.537del
c.205del (p.Ala69ProfsTer2)
n.584del
COSMIC
21g.34880712_34880714delCA658824420RUNX1c.356_358del
c.275_277del
c.320_322del
c.317_319del
c.63_65del
n.535_537del
c.203_205del
n.582_584del
ClinVar dbSNP
21g.34880708C>ACA512318796RUNX1c.357G>T (p.Val119=)
c.276G>T (p.Val92=)
c.321G>T (p.Val107=)
c.318G>T (p.Val106=)
c.64G>T (p.Gly22Cys)
n.536G>T
c.204G>T (p.Val68=)
n.583G>T
21g.34880708C>GCA512318795RUNX1c.357G>C (p.Val119=)
c.276G>C (p.Val92=)
c.321G>C (p.Val107=)
c.318G>C (p.Val106=)
c.64G>C (p.Gly22Arg)
n.536G>C
c.204G>C (p.Val68=)
n.583G>C
21g.34880708C>TCA512318797RUNX1c.357G>A (p.Val119=)
c.276G>A (p.Val92=)
c.321G>A (p.Val107=)
c.318G>A (p.Val106=)
c.64G>A (p.Gly22Ser)
n.536G>A
c.204G>A (p.Val68=)
n.583G>A
gnomAD v4 COSMIC COSMIC
21g.34880709A>CCA410202781RUNX1c.356T>G (p.Val119Gly)
c.275T>G (p.Val92Gly)
c.320T>G (p.Val107Gly)
c.317T>G (p.Val106Gly)
c.63T>G (p.Gly21=)
n.535T>G
c.203T>G (p.Val68Gly)
n.582T>G
21g.34880709A>GCA410202782RUNX1c.356T>C (p.Val119Ala)
c.275T>C (p.Val92Ala)
c.320T>C (p.Val107Ala)
c.317T>C (p.Val106Ala)
c.63T>C (p.Gly21=)
n.535T>C
c.203T>C (p.Val68Ala)
n.582T>C
ClinVar dbSNP
21g.34880709A>TCA410202783RUNX1c.356T>A (p.Val119Glu)
c.275T>A (p.Val92Glu)
c.320T>A (p.Val107Glu)
c.317T>A (p.Val106Glu)
c.63T>A (p.Gly21=)
n.535T>A
c.203T>A (p.Val68Glu)
n.582T>A
21g.34880709dupCA645607413RUNX1c.356dup (p.Ala120GlyfsTer18)
c.275dup (p.Ala93GlyfsTer18)
c.320dup (p.Ala108GlyfsTer18)
c.317dup (p.Ala107GlyfsTer18)
c.63dup (p.Gly22TrpfsTer3)
n.535dup
c.203dup (p.Ala69GlyfsTer18)
n.582dup
ClinVar COSMIC COSMIC
21g.34880710C>ACA410202784RUNX1c.355G>T (p.Val119Leu)
c.274G>T (p.Val92Leu)
c.319G>T (p.Val107Leu)
c.316G>T (p.Val106Leu)
c.62G>T (p.Gly21Val)
n.534G>T
c.202G>T (p.Val68Leu)
n.581G>T
dbSNP
21g.34880710C=CA2387294380RUNX1c.355G= (p.Val119=)
c.274G= (p.Val92=)
c.319G= (p.Val107=)
c.316G= (p.Val106=)
c.62G= (p.Gly21=)
n.534G=
c.202G= (p.Val68=)
n.581G=
21g.34880710C>GCA410202785RUNX1c.355G>C (p.Val119Leu)
c.274G>C (p.Val92Leu)
c.319G>C (p.Val107Leu)
c.316G>C (p.Val106Leu)
c.62G>C (p.Gly21Ala)
n.534G>C
c.202G>C (p.Val68Leu)
n.581G>C
dbSNP
21g.34880710C>TCA410202786RUNX1c.355G>A (p.Val119Met)
c.274G>A (p.Val92Met)
c.319G>A (p.Val107Met)
c.316G>A (p.Val106Met)
c.62G>A (p.Gly21Asp)
n.534G>A
c.202G>A (p.Val68Met)
n.581G>A
ClinVar dbSNP gnomAD v4
21g.34880711C>ACA512318798RUNX1c.354G>T (p.Val118=)
c.273G>T (p.Val91=)
c.318G>T (p.Val106=)
c.315G>T (p.Val105=)
c.61G>T (p.Gly21Cys)
n.533G>T
c.201G>T (p.Val67=)
n.580G>T
dbSNP
21g.34880711C=CA2387294381RUNX1c.354G= (p.Val118=)
c.273G= (p.Val91=)
c.318G= (p.Val106=)
c.315G= (p.Val105=)
c.61G= (p.Gly21=)
n.533G=
c.201G= (p.Val67=)
n.580G=
21g.34880711C>GCA512318800RUNX1c.354G>C (p.Val118=)
c.273G>C (p.Val91=)
c.318G>C (p.Val106=)
c.315G>C (p.Val105=)
c.61G>C (p.Gly21Arg)
n.533G>C
c.201G>C (p.Val67=)
n.580G>C
ClinVar dbSNP gnomAD v4
21g.34880711C>TCA512318799RUNX1c.354G>A (p.Val118=)
c.273G>A (p.Val91=)
c.318G>A (p.Val106=)
c.315G>A (p.Val105=)
c.61G>A (p.Gly21Ser)
n.533G>A
c.201G>A (p.Val67=)
n.580G>A
21g.34880712A>CCA410202787RUNX1c.353T>G (p.Val118Gly)
c.272T>G (p.Val91Gly)
c.317T>G (p.Val106Gly)
c.314T>G (p.Val105Gly)
c.60T>G (p.Gly20=)
n.532T>G
c.200T>G (p.Val67Gly)
n.579T>G
dbSNP
21g.34880712A>GCA410202788RUNX1c.353T>C (p.Val118Ala)
c.272T>C (p.Val91Ala)
c.317T>C (p.Val106Ala)
c.314T>C (p.Val105Ala)
c.60T>C (p.Gly20=)
n.532T>C
c.200T>C (p.Val67Ala)
n.579T>C
dbSNP COSMIC
21g.34880712A>TCA410202789RUNX1c.353T>A (p.Val118Glu)
c.272T>A (p.Val91Glu)
c.317T>A (p.Val106Glu)
c.314T>A (p.Val105Glu)
c.60T>A (p.Gly20=)
n.532T>A
c.200T>A (p.Val67Glu)
n.579T>A
dbSNP COSMIC COSMIC

Number of alleles fetched