Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.34834461_34834468delCA2573050887RUNX1c.747_754del (p.Arg250ProfsTer8)
c.666_673del (p.Arg223ProfsTer8)
c.711_718del (p.Arg238ProfsTer8)
c.532+25006_532+25013del (n.532+25006_532+25013del)
n.283_290del
c.*337_*344del (n.*337_*344del)
c.613+25006_613+25013del (n.613+25006_613+25013del)
c.708_715del (p.Arg237ProfsTer8)
c.574+25006_574+25013del (n.574+25006_574+25013del)
n.926_933del
c.594_601del (p.Arg199ProfsTer8)
n.973_980del
21g.34834461_34834479delCA2573051087RUNX1c.736_754del (p.Thr246ProfsTer2)
c.655_673del (p.Thr219ProfsTer2)
c.700_718del (p.Thr234ProfsTer2)
c.532+24995_532+25013del (n.532+24995_532+25013del)
n.272_290del
c.*326_*344del (n.*326_*344del)
c.613+24995_613+25013del (n.613+24995_613+25013del)
c.697_715del (p.Thr233ProfsTer2)
c.574+24995_574+25013del (n.574+24995_574+25013del)
n.915_933del
c.583_601del (p.Thr195ProfsTer2)
n.962_980del
21g.34834465_34834466delCA2580610816RUNX1c.750_751del (p.Ala251LeufsTer9)
c.669_670del (p.Ala224LeufsTer9)
c.714_715del (p.Ala239LeufsTer9)
c.532+25009_532+25010del (n.532+25009_532+25010del)
n.286_287del
c.*340_*341del (n.*340_*341del)
c.613+25009_613+25010del (n.613+25009_613+25010del)
c.711_712del (p.Ala238LeufsTer9)
c.574+25009_574+25010del (n.574+25009_574+25010del)
n.929_930del
c.597_598del (p.Ala200LeufsTer9)
n.976_977del
21g.34834467_34834468insGTACGCA645608265RUNX1c.750_751insACCGT (p.Ala251ThrfsTer5)
c.669_670insACCGT (p.Ala224ThrfsTer5)
c.714_715insACCGT (p.Ala239ThrfsTer5)
c.532+25009_532+25010insACCGT (n.532+25009_532+25010insACCGT)
n.286_287insACCGT
c.*340_*341insACCGT (n.*340_*341insACCGT)
c.613+25009_613+25010insACCGT (n.613+25009_613+25010insACCGT)
c.711_712insACCGT (p.Ala238ThrfsTer5)
c.574+25009_574+25010insACCGT (n.574+25009_574+25010insACCGT)
n.929_930insACCGT
c.597_598insACCGT (p.Ala200ThrfsTer5)
n.976_977insACCGT
COSMIC
21g.34834466C>ACA410206769RUNX1c.749G>T (p.Arg250Leu)
c.668G>T (p.Arg223Leu)
c.713G>T (p.Arg238Leu)
c.532+25008G>T (n.532+25008G>T)
n.285G>T
c.*339G>T (n.*339G>T)
c.613+25008G>T (n.613+25008G>T)
c.710G>T (p.Arg237Leu)
c.574+25008G>T (n.574+25008G>T)
n.928G>T
c.596G>T (p.Arg199Leu)
n.975G>T
gnomAD v4
21g.34834466C=CA2387272262RUNX1c.749G= (p.Arg250=)
c.668G= (p.Arg223=)
c.713G= (p.Arg238=)
c.532+25008G= (n.532+25008G=)
n.285G=
c.*339G= (n.*339G=)
c.613+25008G= (n.613+25008G=)
c.710G= (p.Arg237=)
c.574+25008G= (n.574+25008G=)
n.928G=
c.596G= (p.Arg199=)
n.975G=
21g.34834466C>GCA410206770RUNX1c.749G>C (p.Arg250Pro)
c.668G>C (p.Arg223Pro)
c.713G>C (p.Arg238Pro)
c.532+25008G>C (n.532+25008G>C)
n.285G>C
c.*339G>C (n.*339G>C)
c.613+25008G>C (n.613+25008G>C)
c.710G>C (p.Arg237Pro)
c.574+25008G>C (n.574+25008G>C)
n.928G>C
c.596G>C (p.Arg199Pro)
n.975G>C
dbSNP gnomAD v4 COSMIC
21g.34834466C>TCA10014362RUNX1c.749G>A (p.Arg250His)
c.668G>A (p.Arg223His)
c.713G>A (p.Arg238His)
c.532+25008G>A (n.532+25008G>A)
n.285G>A
c.*339G>A (n.*339G>A)
c.613+25008G>A (n.613+25008G>A)
c.710G>A (p.Arg237His)
c.574+25008G>A (n.574+25008G>A)
n.928G>A
c.596G>A (p.Arg199His)
n.975G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.34834466_34834467insCCCA891842385RUNX1c.749_750insGG (p.Ala251ValfsTer4)
c.668_669insGG (p.Ala224ValfsTer4)
c.713_714insGG (p.Ala239ValfsTer4)
c.532+25008_532+25009insGG (n.532+25008_532+25009insGG)
n.285_286insGG
c.*339_*340insGG (n.*339_*340insGG)
c.613+25008_613+25009insGG (n.613+25008_613+25009insGG)
c.710_711insGG (p.Ala238ValfsTer4)
c.574+25008_574+25009insGG (n.574+25008_574+25009insGG)
n.928_929insGG
c.596_597insGG (p.Ala200ValfsTer4)
n.975_976insGG
21g.34834466_34834470dupCA645608268RUNX1c.745_749dup (p.Ala251LeufsTer5)
c.664_668dup (p.Ala224LeufsTer5)
c.709_713dup (p.Ala239LeufsTer5)
c.532+25004_532+25008dup (n.532+25004_532+25008dup)
n.281_285dup
c.*335_*339dup (n.*335_*339dup)
c.613+25004_613+25008dup (n.613+25004_613+25008dup)
c.706_710dup (p.Ala238LeufsTer5)
c.574+25004_574+25008dup (n.574+25004_574+25008dup)
n.924_928dup
c.592_596dup (p.Ala200LeufsTer5)
n.971_975dup
COSMIC
21g.34834466_34834467insCACA2695202503RUNX1c.748_749insTG (p.Arg250LeufsTer5)
c.667_668insTG (p.Arg223LeufsTer5)
c.712_713insTG (p.Arg238LeufsTer5)
c.532+25007_532+25008insTG (n.532+25007_532+25008insTG)
n.284_285insTG
c.*338_*339insTG (n.*338_*339insTG)
c.613+25007_613+25008insTG (n.613+25007_613+25008insTG)
c.709_710insTG (p.Arg237LeufsTer5)
c.574+25007_574+25008insTG (n.574+25007_574+25008insTG)
n.927_928insTG
c.595_596insTG (p.Arg199LeufsTer5)
n.974_975insTG
21g.34834466_34834467insTAAACA2573105909RUNX1c.748_749insTTTA (p.Arg250LeufsTer2)
c.667_668insTTTA (p.Arg223LeufsTer2)
c.712_713insTTTA (p.Arg238LeufsTer2)
c.532+25007_532+25008insTTTA (n.532+25007_532+25008insTTTA)
n.284_285insTTTA
c.*338_*339insTTTA (n.*338_*339insTTTA)
c.613+25007_613+25008insTTTA (n.613+25007_613+25008insTTTA)
c.709_710insTTTA (p.Arg237LeufsTer2)
c.574+25007_574+25008insTTTA (n.574+25007_574+25008insTTTA)
n.927_928insTTTA
c.595_596insTTTA (p.Arg199LeufsTer2)
n.974_975insTTTA
21g.34834466_34834467insAAGGGGACA915940841RUNX1c.748_749insTCCCCTT (p.Arg250LeufsTer13)
c.667_668insTCCCCTT (p.Arg223LeufsTer13)
c.712_713insTCCCCTT (p.Arg238LeufsTer13)
c.532+25007_532+25008insTCCCCTT (n.532+25007_532+25008insTCCCCTT)
n.284_285insTCCCCTT
c.*338_*339insTCCCCTT (n.*338_*339insTCCCCTT)
c.613+25007_613+25008insTCCCCTT (n.613+25007_613+25008insTCCCCTT)
c.709_710insTCCCCTT (p.Arg237LeufsTer13)
c.574+25007_574+25008insTCCCCTT (n.574+25007_574+25008insTCCCCTT)
n.927_928insTCCCCTT
c.595_596insTCCCCTT (p.Arg199LeufsTer13)
n.974_975insTCCCCTT
21g.34834467G>ACA410206771RUNX1c.748C>T (p.Arg250Cys)
c.667C>T (p.Arg223Cys)
c.712C>T (p.Arg238Cys)
c.532+25007C>T (n.532+25007C>T)
n.284C>T
c.*338C>T (n.*338C>T)
c.613+25007C>T (n.613+25007C>T)
c.709C>T (p.Arg237Cys)
c.574+25007C>T (n.574+25007C>T)
n.927C>T
c.595C>T (p.Arg199Cys)
n.974C>T
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.34834467G>CCA410206773RUNX1c.748C>G (p.Arg250Gly)
c.667C>G (p.Arg223Gly)
c.712C>G (p.Arg238Gly)
c.532+25007C>G (n.532+25007C>G)
n.284C>G
c.*338C>G (n.*338C>G)
c.613+25007C>G (n.613+25007C>G)
c.709C>G (p.Arg237Gly)
c.574+25007C>G (n.574+25007C>G)
n.927C>G
c.595C>G (p.Arg199Gly)
n.974C>G
21g.34834467G=CA2387272264RUNX1c.748C= (p.Arg250=)
c.667C= (p.Arg223=)
c.712C= (p.Arg238=)
c.532+25007C= (n.532+25007C=)
n.284C=
c.*338C= (n.*338C=)
c.613+25007C= (n.613+25007C=)
c.709C= (p.Arg237=)
c.574+25007C= (n.574+25007C=)
n.927C=
c.595C= (p.Arg199=)
n.974C=
21g.34834467G>TCA410206772RUNX1c.748C>A (p.Arg250Ser)
c.667C>A (p.Arg223Ser)
c.712C>A (p.Arg238Ser)
c.532+25007C>A (n.532+25007C>A)
n.284C>A
c.*338C>A (n.*338C>A)
c.613+25007C>A (n.613+25007C>A)
c.709C>A (p.Arg237Ser)
c.574+25007C>A (n.574+25007C>A)
n.927C>A
c.595C>A (p.Arg199Ser)
n.974C>A
21g.34834468A=CA2387272265RUNX1c.747T= (p.Pro249=)
c.666T= (p.Pro222=)
c.711T= (p.Pro237=)
c.532+25006T= (n.532+25006T=)
n.283T=
c.*337T= (n.*337T=)
c.613+25006T= (n.613+25006T=)
c.708T= (p.Pro236=)
c.574+25006T= (n.574+25006T=)
n.926T=
c.594T= (p.Pro198=)
n.973T=
21g.34834468A>CCA512318592RUNX1c.747T>G (p.Pro249=)
c.666T>G (p.Pro222=)
c.711T>G (p.Pro237=)
c.532+25006T>G (n.532+25006T>G)
n.283T>G
c.*337T>G (n.*337T>G)
c.613+25006T>G (n.613+25006T>G)
c.708T>G (p.Pro236=)
c.574+25006T>G (n.574+25006T>G)
n.926T>G
c.594T>G (p.Pro198=)
n.973T>G
dbSNP
21g.34834468A>GCA512318591RUNX1c.747T>C (p.Pro249=)
c.666T>C (p.Pro222=)
c.711T>C (p.Pro237=)
c.532+25006T>C (n.532+25006T>C)
n.283T>C
c.*337T>C (n.*337T>C)
c.613+25006T>C (n.613+25006T>C)
c.708T>C (p.Pro236=)
c.574+25006T>C (n.574+25006T>C)
n.926T>C
c.594T>C (p.Pro198=)
n.973T>C
gnomAD v4
21g.34834468A>TCA512318593RUNX1c.747T>A (p.Pro249=)
c.666T>A (p.Pro222=)
c.711T>A (p.Pro237=)
c.532+25006T>A (n.532+25006T>A)
n.283T>A
c.*337T>A (n.*337T>A)
c.613+25006T>A (n.613+25006T>A)
c.708T>A (p.Pro236=)
c.574+25006T>A (n.574+25006T>A)
n.926T>A
c.594T>A (p.Pro198=)
n.973T>A
ClinVar gnomAD v4
21g.34834469G>ACA410206774RUNX1c.746C>T (p.Pro249Leu)
c.665C>T (p.Pro222Leu)
c.710C>T (p.Pro237Leu)
c.532+25005C>T (n.532+25005C>T)
n.282C>T
c.*336C>T (n.*336C>T)
c.613+25005C>T (n.613+25005C>T)
c.707C>T (p.Pro236Leu)
c.574+25005C>T (n.574+25005C>T)
n.925C>T
c.593C>T (p.Pro198Leu)
n.972C>T
21g.34834469G>CCA410206775RUNX1c.746C>G (p.Pro249Arg)
c.665C>G (p.Pro222Arg)
c.710C>G (p.Pro237Arg)
c.532+25005C>G (n.532+25005C>G)
n.282C>G
c.*336C>G (n.*336C>G)
c.613+25005C>G (n.613+25005C>G)
c.707C>G (p.Pro236Arg)
c.574+25005C>G (n.574+25005C>G)
n.925C>G
c.593C>G (p.Pro198Arg)
n.972C>G
21g.34834469G>TCA410206776RUNX1c.746C>A (p.Pro249His)
c.665C>A (p.Pro222His)
c.710C>A (p.Pro237His)
c.532+25005C>A (n.532+25005C>A)
n.282C>A
c.*336C>A (n.*336C>A)
c.613+25005C>A (n.613+25005C>A)
c.707C>A (p.Pro236His)
c.574+25005C>A (n.574+25005C>A)
n.925C>A
c.593C>A (p.Pro198His)
n.972C>A
21g.34834470G>ACA410206777RUNX1c.745C>T (p.Pro249Ser)
c.664C>T (p.Pro222Ser)
c.709C>T (p.Pro237Ser)
c.532+25004C>T (n.532+25004C>T)
n.281C>T
c.*335C>T (n.*335C>T)
c.613+25004C>T (n.613+25004C>T)
c.706C>T (p.Pro236Ser)
c.574+25004C>T (n.574+25004C>T)
n.924C>T
c.592C>T (p.Pro198Ser)
n.971C>T
dbSNP
21g.34834470G>CCA410206778RUNX1c.745C>G (p.Pro249Ala)
c.664C>G (p.Pro222Ala)
c.709C>G (p.Pro237Ala)
c.532+25004C>G (n.532+25004C>G)
n.281C>G
c.*335C>G (n.*335C>G)
c.613+25004C>G (n.613+25004C>G)
c.706C>G (p.Pro236Ala)
c.574+25004C>G (n.574+25004C>G)
n.924C>G
c.592C>G (p.Pro198Ala)
n.971C>G
21g.34834470G=CA2387272266RUNX1c.745C= (p.Pro249=)
c.664C= (p.Pro222=)
c.709C= (p.Pro237=)
c.532+25004C= (n.532+25004C=)
n.281C=
c.*335C= (n.*335C=)
c.613+25004C= (n.613+25004C=)
c.706C= (p.Pro236=)
c.574+25004C= (n.574+25004C=)
n.924C=
c.592C= (p.Pro198=)
n.971C=
21g.34834470G>TCA10014363RUNX1c.745C>A (p.Pro249Thr)
c.664C>A (p.Pro222Thr)
c.709C>A (p.Pro237Thr)
c.532+25004C>A (n.532+25004C>A)
n.281C>A
c.*335C>A (n.*335C>A)
c.613+25004C>A (n.613+25004C>A)
c.706C>A (p.Pro236Thr)
c.574+25004C>A (n.574+25004C>A)
n.924C>A
c.592C>A (p.Pro198Thr)
n.971C>A
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34834471G>ACA512318594RUNX1c.744C>T (p.Asn248=)
c.663C>T (p.Asn221=)
c.708C>T (p.Asn236=)
c.532+25003C>T (n.532+25003C>T)
n.280C>T
c.*334C>T (n.*334C>T)
c.613+25003C>T (n.613+25003C>T)
c.705C>T (p.Asn235=)
c.574+25003C>T (n.574+25003C>T)
n.923C>T
c.591C>T (p.Asn197=)
n.970C>T
ClinVar dbSNP
21g.34834471G>CCA410206779RUNX1c.744C>G (p.Asn248Lys)
c.663C>G (p.Asn221Lys)
c.708C>G (p.Asn236Lys)
c.532+25003C>G (n.532+25003C>G)
n.280C>G
c.*334C>G (n.*334C>G)
c.613+25003C>G (n.613+25003C>G)
c.705C>G (p.Asn235Lys)
c.574+25003C>G (n.574+25003C>G)
n.923C>G
c.591C>G (p.Asn197Lys)
n.970C>G
21g.34834471G=CA2387272267RUNX1c.744C= (p.Asn248=)
c.663C= (p.Asn221=)
c.708C= (p.Asn236=)
c.532+25003C= (n.532+25003C=)
n.280C=
c.*334C= (n.*334C=)
c.613+25003C= (n.613+25003C=)
c.705C= (p.Asn235=)
c.574+25003C= (n.574+25003C=)
n.923C=
c.591C= (p.Asn197=)
n.970C=
21g.34834471G>TCA410206780RUNX1c.744C>A (p.Asn248Lys)
c.663C>A (p.Asn221Lys)
c.708C>A (p.Asn236Lys)
c.532+25003C>A (n.532+25003C>A)
n.280C>A
c.*334C>A (n.*334C>A)
c.613+25003C>A (n.613+25003C>A)
c.705C>A (p.Asn235Lys)
c.574+25003C>A (n.574+25003C>A)
n.923C>A
c.591C>A (p.Asn197Lys)
n.970C>A
21g.34834472T>ACA410206781RUNX1c.743A>T (p.Asn248Ile)
c.662A>T (p.Asn221Ile)
c.707A>T (p.Asn236Ile)
c.532+25002A>T (n.532+25002A>T)
n.279A>T
c.*333A>T (n.*333A>T)
c.613+25002A>T (n.613+25002A>T)
c.704A>T (p.Asn235Ile)
c.574+25002A>T (n.574+25002A>T)
n.922A>T
c.590A>T (p.Asn197Ile)
n.969A>T
dbSNP
21g.34834472T>CCA410206782RUNX1c.743A>G (p.Asn248Ser)
c.662A>G (p.Asn221Ser)
c.707A>G (p.Asn236Ser)
c.532+25002A>G (n.532+25002A>G)
n.279A>G
c.*333A>G (n.*333A>G)
c.613+25002A>G (n.613+25002A>G)
c.704A>G (p.Asn235Ser)
c.574+25002A>G (n.574+25002A>G)
n.922A>G
c.590A>G (p.Asn197Ser)
n.969A>G
21g.34834472T>GCA10014364RUNX1c.743A>C (p.Asn248Thr)
c.662A>C (p.Asn221Thr)
c.707A>C (p.Asn236Thr)
c.532+25002A>C (n.532+25002A>C)
n.279A>C
c.*333A>C (n.*333A>C)
c.613+25002A>C (n.613+25002A>C)
c.704A>C (p.Asn235Thr)
c.574+25002A>C (n.574+25002A>C)
n.922A>C
c.590A>C (p.Asn197Thr)
n.969A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34834472T=CA2387272268RUNX1c.743A= (p.Asn248=)
c.662A= (p.Asn221=)
c.707A= (p.Asn236=)
c.532+25002A= (n.532+25002A=)
n.279A=
c.*333A= (n.*333A=)
c.613+25002A= (n.613+25002A=)
c.704A= (p.Asn235=)
c.574+25002A= (n.574+25002A=)
n.922A=
c.590A= (p.Asn197=)
n.969A=
21g.34834472_34834486delCA2573051223RUNX1c.729_743del (p.Ala244_Asn248del)
c.648_662del (p.Ala217_Asn221del)
c.693_707del (p.Ala232_Asn236del)
c.532+24988_532+25002del (n.532+24988_532+25002del)
n.265_279del
c.*319_*333del (n.*319_*333del)
c.613+24988_613+25002del (n.613+24988_613+25002del)
c.690_704del (p.Ala231_Asn235del)
c.574+24988_574+25002del (n.574+24988_574+25002del)
n.908_922del
c.576_590del (p.Ala193_Asn197del)
n.955_969del
21g.34834473T>ACA410206785RUNX1c.742A>T (p.Asn248Tyr)
c.661A>T (p.Asn221Tyr)
c.706A>T (p.Asn236Tyr)
c.532+25001A>T (n.532+25001A>T)
n.278A>T
c.*332A>T (n.*332A>T)
c.613+25001A>T (n.613+25001A>T)
c.703A>T (p.Asn235Tyr)
c.574+25001A>T (n.574+25001A>T)
n.921A>T
c.589A>T (p.Asn197Tyr)
n.968A>T
21g.34834473T>CCA410206783RUNX1c.742A>G (p.Asn248Asp)
c.661A>G (p.Asn221Asp)
c.706A>G (p.Asn236Asp)
c.532+25001A>G (n.532+25001A>G)
n.278A>G
c.*332A>G (n.*332A>G)
c.613+25001A>G (n.613+25001A>G)
c.703A>G (p.Asn235Asp)
c.574+25001A>G (n.574+25001A>G)
n.921A>G
c.589A>G (p.Asn197Asp)
n.968A>G
21g.34834473T>GCA410206784RUNX1c.742A>C (p.Asn248His)
c.661A>C (p.Asn221His)
c.706A>C (p.Asn236His)
c.532+25001A>C (n.532+25001A>C)
n.278A>C
c.*332A>C (n.*332A>C)
c.613+25001A>C (n.613+25001A>C)
c.703A>C (p.Asn235His)
c.574+25001A>C (n.574+25001A>C)
n.921A>C
c.589A>C (p.Asn197His)
n.968A>C
21g.34834474G>ACA16616523RUNX1c.741C>T (p.Pro247=)
c.660C>T (p.Pro220=)
c.705C>T (p.Pro235=)
c.532+25000C>T (n.532+25000C>T)
n.277C>T
c.*331C>T (n.*331C>T)
c.613+25000C>T (n.613+25000C>T)
c.702C>T (p.Pro234=)
c.574+25000C>T (n.574+25000C>T)
n.920C>T
c.588C>T (p.Pro196=)
n.967C>T
ClinVar dbSNP gnomAD v4
21g.34834474G>CCA512318596RUNX1c.741C>G (p.Pro247=)
c.660C>G (p.Pro220=)
c.705C>G (p.Pro235=)
c.532+25000C>G (n.532+25000C>G)
n.277C>G
c.*331C>G (n.*331C>G)
c.613+25000C>G (n.613+25000C>G)
c.702C>G (p.Pro234=)
c.574+25000C>G (n.574+25000C>G)
n.920C>G
c.588C>G (p.Pro196=)
n.967C>G
21g.34834474G=CA2387272269RUNX1c.741C= (p.Pro247=)
c.660C= (p.Pro220=)
c.705C= (p.Pro235=)
c.532+25000C= (n.532+25000C=)
n.277C=
c.*331C= (n.*331C=)
c.613+25000C= (n.613+25000C=)
c.702C= (p.Pro234=)
c.574+25000C= (n.574+25000C=)
n.920C=
c.588C= (p.Pro196=)
n.967C=
21g.34834474G>TCA512318595RUNX1c.741C>A (p.Pro247=)
c.660C>A (p.Pro220=)
c.705C>A (p.Pro235=)
c.532+25000C>A (n.532+25000C>A)
n.277C>A
c.*331C>A (n.*331C>A)
c.613+25000C>A (n.613+25000C>A)
c.702C>A (p.Pro234=)
c.574+25000C>A (n.574+25000C>A)
n.920C>A
c.588C>A (p.Pro196=)
n.967C>A
gnomAD v4
21g.34834475_34834476dupCA645608270RUNX1c.740_741dup (p.Asn248ProfsTer7)
c.659_660dup (p.Asn221ProfsTer7)
c.704_705dup (p.Asn236ProfsTer7)
c.532+24999_532+25000dup (n.532+24999_532+25000dup)
n.276_277dup
c.*330_*331dup (n.*330_*331dup)
c.613+24999_613+25000dup (n.613+24999_613+25000dup)
c.701_702dup (p.Asn235ProfsTer7)
c.574+24999_574+25000dup (n.574+24999_574+25000dup)
n.919_920dup
c.587_588dup (p.Asn197ProfsTer7)
n.966_967dup
COSMIC
21g.34834476delCA891842386RUNX1c.741del (p.Asn248ThrfsTer6)
c.660del (p.Asn221ThrfsTer6)
c.705del (p.Asn236ThrfsTer6)
c.532+25000del (n.532+25000del)
n.277del
c.*331del (n.*331del)
c.613+25000del (n.613+25000del)
c.702del (p.Asn235ThrfsTer6)
c.574+25000del (n.574+25000del)
n.920del
c.588del (p.Asn197ThrfsTer6)
n.967del
21g.34834475G>ACA410206786RUNX1c.740C>T (p.Pro247Leu)
c.659C>T (p.Pro220Leu)
c.704C>T (p.Pro235Leu)
c.532+24999C>T (n.532+24999C>T)
n.276C>T
c.*330C>T (n.*330C>T)
c.613+24999C>T (n.613+24999C>T)
c.701C>T (p.Pro234Leu)
c.574+24999C>T (n.574+24999C>T)
n.919C>T
c.587C>T (p.Pro196Leu)
n.966C>T
21g.34834475G>CCA410206787RUNX1c.740C>G (p.Pro247Arg)
c.659C>G (p.Pro220Arg)
c.704C>G (p.Pro235Arg)
c.532+24999C>G (n.532+24999C>G)
n.276C>G
c.*330C>G (n.*330C>G)
c.613+24999C>G (n.613+24999C>G)
c.701C>G (p.Pro234Arg)
c.574+24999C>G (n.574+24999C>G)
n.919C>G
c.587C>G (p.Pro196Arg)
n.966C>G
21g.34834475G>TCA410206788RUNX1c.740C>A (p.Pro247His)
c.659C>A (p.Pro220His)
c.704C>A (p.Pro235His)
c.532+24999C>A (n.532+24999C>A)
n.276C>A
c.*330C>A (n.*330C>A)
c.613+24999C>A (n.613+24999C>A)
c.701C>A (p.Pro234His)
c.574+24999C>A (n.574+24999C>A)
n.919C>A
c.587C>A (p.Pro196His)
n.966C>A
21g.34834476G>ACA410206789RUNX1c.739C>T (p.Pro247Ser)
c.658C>T (p.Pro220Ser)
c.703C>T (p.Pro235Ser)
c.532+24998C>T (n.532+24998C>T)
n.275C>T
c.*329C>T (n.*329C>T)
c.613+24998C>T (n.613+24998C>T)
c.700C>T (p.Pro234Ser)
c.574+24998C>T (n.574+24998C>T)
n.918C>T
c.586C>T (p.Pro196Ser)
n.965C>T
ClinVar dbSNP gnomAD v4

Number of alleles fetched