Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34834461_34834468del | CA2573050887 | RUNX1 | c.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 | |
21 | g.34834461_34834479del | CA2573051087 | RUNX1 | c.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 | |
21 | g.34834465_34834466del | CA2580610816 | RUNX1 | c.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 | |
21 | g.34834467_34834468insGTACG | CA645608265 | RUNX1 | c.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 |
21 | g.34834466C>A | CA410206769 | RUNX1 | c.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 |
21 | g.34834466C= | CA2387272262 | RUNX1 | c.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= | |
21 | g.34834466C>G | CA410206770 | RUNX1 | c.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 |
21 | g.34834466C>T | CA10014362 | RUNX1 | c.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 |
21 | g.34834466_34834467insCC | CA891842385 | RUNX1 | c.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 | |
21 | g.34834466_34834470dup | CA645608268 | RUNX1 | c.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 |
21 | g.34834466_34834467insCA | CA2695202503 | RUNX1 | c.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 | |
21 | g.34834466_34834467insTAAA | CA2573105909 | RUNX1 | c.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 | |
21 | g.34834466_34834467insAAGGGGA | CA915940841 | RUNX1 | c.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 | |
21 | g.34834467G>A | CA410206771 | RUNX1 | c.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 |
21 | g.34834467G>C | CA410206773 | RUNX1 | c.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 | |
21 | g.34834467G= | CA2387272264 | RUNX1 | c.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= | |
21 | g.34834467G>T | CA410206772 | RUNX1 | c.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 | |
21 | g.34834468A= | CA2387272265 | RUNX1 | c.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= | |
21 | g.34834468A>C | CA512318592 | RUNX1 | c.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 |
21 | g.34834468A>G | CA512318591 | RUNX1 | c.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 |
21 | g.34834468A>T | CA512318593 | RUNX1 | c.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 |
21 | g.34834469G>A | CA410206774 | RUNX1 | c.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 | |
21 | g.34834469G>C | CA410206775 | RUNX1 | c.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 | |
21 | g.34834469G>T | CA410206776 | RUNX1 | c.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 | |
21 | g.34834470G>A | CA410206777 | RUNX1 | c.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 |
21 | g.34834470G>C | CA410206778 | RUNX1 | c.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 | |
21 | g.34834470G= | CA2387272266 | RUNX1 | c.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= | |
21 | g.34834470G>T | CA10014363 | RUNX1 | c.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 |
21 | g.34834471G>A | CA512318594 | RUNX1 | c.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 |
21 | g.34834471G>C | CA410206779 | RUNX1 | c.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 | |
21 | g.34834471G= | CA2387272267 | RUNX1 | c.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= | |
21 | g.34834471G>T | CA410206780 | RUNX1 | c.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 | |
21 | g.34834472T>A | CA410206781 | RUNX1 | c.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 |
21 | g.34834472T>C | CA410206782 | RUNX1 | c.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 | |
21 | g.34834472T>G | CA10014364 | RUNX1 | c.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 |
21 | g.34834472T= | CA2387272268 | RUNX1 | c.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= | |
21 | g.34834472_34834486del | CA2573051223 | RUNX1 | c.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 | |
21 | g.34834473T>A | CA410206785 | RUNX1 | c.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 | |
21 | g.34834473T>C | CA410206783 | RUNX1 | c.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 | |
21 | g.34834473T>G | CA410206784 | RUNX1 | c.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 | |
21 | g.34834474G>A | CA16616523 | RUNX1 | c.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 |
21 | g.34834474G>C | CA512318596 | RUNX1 | c.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 | |
21 | g.34834474G= | CA2387272269 | RUNX1 | c.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= | |
21 | g.34834474G>T | CA512318595 | RUNX1 | c.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 |
21 | g.34834475_34834476dup | CA645608270 | RUNX1 | c.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 |
21 | g.34834476del | CA891842386 | RUNX1 | c.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 | |
21 | g.34834475G>A | CA410206786 | RUNX1 | c.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 | |
21 | g.34834475G>C | CA410206787 | RUNX1 | c.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 | |
21 | g.34834475G>T | CA410206788 | RUNX1 | c.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 | |
21 | g.34834476G>A | CA410206789 | RUNX1 | c.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 |